EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.

Automatic detection of generalized paroxysmal fast activity in interictal EEG using time-frequency analysis

Amir Omidvarnia, Aaron EL Warren, Linda J Dalic, Mangor Pedersen, Graeme Jackson

2021-06-01

OBJECTIVE: Markup of generalized interictal epileptiform discharges (IEDs) on EEG is an important step in the diagnosis and charac..

Temporal complexity of fMRI is reproducible and correlates with higher order cognition

Amir Omidvarnia, Andrew Zalesky, Sina L Mansour, Dimitri Van de Ville, Graeme D Jackson, Mangor Pedersen

2021-04-15

It has been hypothesized that resting state networks (RSNs), extracted from resting state functional magnetic resonance imaging (r..

Missense variant contribution to USP9X-female syndrome

Lachlan A Jolly, Euan Parnell, Alison E Gardner, Mark A Corbett, Luis A Perez-Jurado, Marie Shaw, Gaetan Lesca, Catherine Keegan, Michael C Schneider, Emily Griffin, Felicitas Maier, Courtney Kiss, Andrea Guerin, Kathleen Crosby, Kenneth Rosenbaum, Pranoot Tanpaiboon, Sandra Whalen, Boris Keren, Julie McCarrier, Donald Basel

2020-12-09

USP9X is an X-chromosome gene that escapes X-inactivation. Loss or compromised function of USP9X leads to neurodevelopmental disor..

Generalized, focal, and combined epilepsies in families: New evidence for distinct genetic factors

Colin A Ellis, Ruth Ottman, Michael P Epstein, Samuel F Berkovic

2020-12-01

Objective To determine the roles of shared and distinct genetic influences on generalized and focal epilepsy operating in individu..

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

Meng-Han Tsai, Alison M Muir, Won-Jing Wang, Yi-Ning Kang, Kun-Chuan Yang, Nian-Hsin Chao, Mei-Feng Wu, Ying-Chao Chang, Brenda E Porter, Laura A Jansen, Guillaume Sebire, Nicolas Deconinck, Wen-Lang Fan, Shih-Chi Su, Wen-Hung Chung, Edith P Almanza Fuerte, Michele G Mehaffey, Ching-Ching Ng, Chung-Kin Chan, Kheng-Seang Lim

2020-04-22

Lissencephaly (LIS), denoting a "smooth brain," is characterized by the absence of normal cerebral convolutions with abnormalities..

Automatic detection of generalized paroxysmal fast activity in Lennox-Gastaut syndrome using a bi-modal EEG time-frequency feature

Amir Omidvarnia, Aaron EL Warren, Linda Dalic, Mangor Pedersen, John Archer, Graeme Jackson

2020-01-02

<h4>Objective</h4> Mark-up of generalized interictal epileptiform discharges (IEDs) on EEG is an important step in the diagnosis a..

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Rosemary Burgess, Shuyu Wang, Amy McTague, Katja E Boysen, Xiaoling Yang, Qi Zeng, Kenneth A Myers, Anne Rochtus, Marina Trivisano, Deepak Gill, Lynette G Sadleir, Nicola Specchio, Renzo Guerrini, Carla Marini, Yue-Hua Zhang, Heather C Mefford, Manju A Kurian, Annapurna H Poduri, Ingrid E Scheffer

2019-12-01

OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encepha..

The "maternal effect" on epilepsy risk: Analysis of familial epilepsies and reassessment of prior evidence

Colin A Ellis, Samuel F Berkovic, Michael P Epstein, Ruth Ottman

2019-11-18

OBJECTIVE: Previous studies have observed that epilepsy risk is higher among offspring of affected women than offspring of affecte..

MRtrix3: A fast, flexible and open software framework for medical image processing and visualisation

J-Donald Tournier, Robert Smith, David Raffelt, Rami Tabbara, Thijs Dhollander, Maximilian Pietsch, Daan Christiaens, Ben Jeurissen, Chun-Hung Yeh, Alan Connelly

2019-11-15

MRtrix3 is an open-source, cross-platform software package for medical image processing, analysis and visualisation, with a partic..

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Colin A Ellis, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Eric B Geller

2019-11-01

OBJECTIVE: Classification of epilepsy into types and subtypes is important for both clinical care and research into underlying dis..

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Mark A Corbett, Thessa Kroes, Liana Veneziano, Mark F Bennett, Rahel Florian, Amy L Schneider, Antonietta Coppola, Laura Licchetta, Silvana Franceschetti, Antonio Suppa, Aaron Wenger, Davide Mei, Manuela Pendziwiat, Sabine Kaya, Massimo Delledonne, Rachel Straussberg, Luciano Xumerle, Brigid Regan, Douglas Crompton, Anne-Fleur van Rootselaar

2019-10-29

Familial Adult Myoclonic Epilepsy (FAME) is characterised by cortical myoclonic tremor usually from the second decade of life and ..

Temporal complexity of fMRI is reproducible and correlates with higher order cognition

Amir Omidvarnia, Andrew Zalesky, Sina Mansour, Dimitri Van De Ville, Graeme Jackson, Mangor Pedersen

2019-09-16

It has been hypothesized that resting state networks (RSNs) likely display unique temporal complexity fingerprints, quantified by ..

REPLY TO YANG ET AL.: Multilayer network switching and behavior

Mangor Pedersen, Andrew Zalesky, Amir Omidvarnia, Graeme D Jackson

2019-08-20

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

Colin A Ellis, Leonid Churilov, Michael P Epstein, Sharon X Xie, Susannah T Bellows, Ruth Ottman, Samuel F Berkovic

2019-07-01

OBJECTIVE: We tested 2 hypotheses regarding age at onset within familial epilepsies: (1) family members with epilepsy tend to have..

MRtrix3: A fast, flexible and open software framework for medical image processing and visualisation

J-Donald Tournier, Robert Smith, David Raffelt, Rami Tabbara, Thijs Dhollander, Maximilian Pietsch, Daan Christiaens, Ben Jeurissen, Chun-Hung Yeh, Alan Connelly

2019-02-15

Abstract MRtrix3 is an open-source, cross-platform software package for medical image processing, analysis and visualization, with..

Multilayer network switching rate predicts brain performance

Mangor Pedersen, Andrew Zalesky, Amir Omidvarnia, Graeme D Jackson

2018-12-26

Large-scale brain dynamics are characterized by repeating spatiotemporal connectivity patterns that reflect a range of putative di..

On the relationship between instantaneous phase synchrony and correlation-based sliding windows for time-resolved fMRI connectivity analysis

Mangor Pedersen, Amir Omidvarnia, Andrew Zalesky, Graeme D Jackson

2018-11-01

Correlation-based sliding window analysis (CSWA) is the most commonly used method to estimate time-resolved functional MRI (fMRI) ..

Evidence of linkage to chromosome 5p13.2-q11.1 in a large inbred family with genetic generalized epilepsy

Demet Kinay, Karen L Oliver, Erdem Tuzun, John A Damiano, Canan Ulusoy, Eva Andermann, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic

2018-08-01

The clinical genetics of genetic generalized epilepsy suggests complex inheritance; large pedigrees, with multiple affected indivi..

Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study

Kenneth A Myers, Paul Lightfoot, Shekhar G Patil, J Helen Cross, Ingrid E Scheffer

2018-06-01

AIM: To assess long-term safety and efficacy of stiripentol as an antiepileptic medication for people with Dravet syndrome. METHOD..

A Novel Group-Fused Sparse Partial Correlation Method for Simultaneous Estimation of Functional Networks in Group Comparison Studies

Xiaoyun Liang, David N Vaughan, Alan Connelly, Fernando Calamante

2018-05-01

The conventional way to estimate functional networks is primarily based on Pearson correlation along with classic Fisher Z test. I..

ADGRV1 is implicated in myoclonic epilepsy

Kenneth A Myers, Steven Nasioulas, Amber Boys, Jacinta M McMahon, Howard Slater, Paul Lockhart, Desiree du Sart, Ingrid E Scheffer

2018-02-01

OBJECTIVE: To investigate the significance of variation in ADGRV1 (also known as GPR98, MASS1, and VLGR1), MEF2C, and other genes ..

Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study

Christopher D Whelan, Andre Altmann, Juan A Botia, Neda Jahanshad, Derrek P Hibar, Julie Absil, Saud Alhusaini, Marina KM Alvim, Pia Auvinen, Emanuele Bartolini, Felipe PG Bergo, Tauana Bernardes, Karen Blackmon, Barbara Braga, Maria Eugenia Caligiuri, Anna Calvo, Sarah J Carr, Jian Chen, Shuai Chen, Andrea Cherubini

2018-02-01

Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand fa..

KANSL1 variation is not a major contributing factor in self-limited focal epilepsy syndromes of childhood

Kenneth A Myers, Amelia McGlade, Bernd A Neubauer, Dennis Lal, Samuel F Berkovic, Ingrid E Scheffer, Michael S Hildebrand

2018-01-19

BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectua..

Cognitive impairment in epilepsy: the role of reduced network flexibility

Chris Tailby, Magdalena A Kowalczyk, Graeme D Jackson

2018-01-01

Objective: The dominant model of cognitive impairment in focal epilepsy has emphasised structural bases for cognitive deficits. Cu..

Dynamic Coupling between fMRI Local Connectivity and Interictal EEG in Focal Epilepsy: AWavelet Analysis Approach

Amir Omidvarnia, Mangor Pedersen, David N Vaughan, Jennifer M Walz, David F Abbott, Andrew Zalesky, Graeme D Jackson

2017-11-01

Simultaneous scalp EEG-fMRI recording is a noninvasive neuroimaging technique for combining electrophysiological and hemodynamic a..

Familial epilepsy with anterior polymicrogyria as a presentation of COL18A1 mutations

Mark A Corbett, Samantha J Turner, Alison Gardner, Jeremy Silver, Jim Stankovich, Richard J Leventer, Christopher P Derry, Renee Carroll, Thuong Ha, Ingrid E Scheffer, Melanie Bahlo, Graeme D Jackson, David A Mackey, Samuel F Berkovic, Jozef Gecz

2017-08-01

Knobloch syndrome [OMIM: (KNO1) #267750] is a rare and clinically heterogeneous autosomal recessive disorder caused by mutations i..

Phenotypic analysis of 303 multiplex families with common epilepsies

Bassel Abou-Khalil, Zaid Afawi, Andrew S Allen, Jocelyn F Bautista, Susannah T Bellows, Samuel F Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory Cascino, Elisa J Cops, Patrick Cossette, Sabrina Cristofaro, Douglas E Crompton, Norman Delanty, Orrin Devinsky, Dennis Dlugos, Michael P Epstein, Nathan B Fountain, Catharine Freyer, Sarah I Garry

2017-08-01

Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations ..

The epileptology of Koolen-de Vries syndrome: Electro-clinico-radiologic findings in 31 patients

Kenneth A Myers, Simone A Mandelstam, Georgia Ramantani, Elisabeth J Rushing, Bert B de Vries, David A Koolen, Ingrid E Scheffer

2017-06-01

OBJECTIVE: This study was designed to describe the spectrum of epilepsy phenotypes in Koolen-de Vries syndrome (KdVS), a genetic s..

The spatiotemporal substrates of autobiographical recollection: Using event-related ICA to study cognitive networks in action

Chris Tailby, Genevieve Rayner, Sarah Wilson, Graeme Jackson

2017-05-15

Higher cognitive functions depend upon dynamically unfolding brain network interactions. Autobiographical recollection - the auton..

Myoclonic Absence Seizures in Dravet Syndrome

Kenneth A Myers, Ingrid E Scheffer

2017-05-01

BACKGROUND: Dravet syndrome is a developmental and epileptic encephalopathy that occurs as a result of SCN1A mutations in more tha..

Myoclonus Epilepsy and Ataxia due to KCNC1 Mutation: Analysis of 20 Cases and K plus Channel Properties

Karen L Oliver, Silvana Franceschetti, Carol J Milligan, Mikko Muona, Simone A Mandelstam, Laura Canafoglia, Anna M Boguszewska-Chachulska, Amos D Korczyn, Francesca Bisulli, Carlo Di Bonaventura, Francesca Ragona, Roberto Michelucci, Bruria Ben-Zeev, Rachel Straussberg, Ferruccio Panzica, Joao Massano, Daniel Friedman, Arielle Crespel, Bernt A Engelsen, Frederick Andermann

2017-05-01

OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK),..

Is a microRNA-328 binding site in PAX6 associated with Rolandic epilepsy?

Amelia McGlade, Kenneth A Myers, Samuel F Berkovic, Ingrid E Scheffer, Slave Petrovski, Michael S Hildebrand

2017-04-01

Spatiotemporal mapping of epileptic spikes using simultaneous EEG-functional MRI

Jennifer M Walz, Mangor Pedersen, Amir Omidvarnia, Mira Semmelroch, Graeme D Jackson

2017-04-01

Epileptic spikes occur on the sub-second timescale and are known to involve not only epileptic foci but also large-scale distribut..

Frequency of CNKSR2 mutation in the X-linked epilepsy-aphasia spectrum

John A Damiano, Rosemary Burgess, Sara Kivity, Tally Lerman-Sagie, Zaid Afawi, Ingrid E Scheffer, Samuel F Berkovic, Michael S Hildebrand

2017-03-01

Synaptic proteins are critical to neuronal function in the brain, and their deficiency can lead to seizures and cognitive impairme..

De novo SCN1A pathogenic variants in the GEFS plus spectrum: Not always a familial syndrome

Kenneth A Myers, Rosemary Burgess, Zaid Afawi, John A Damiano, Samuel F Berkovic, Michael S Hildebrand, Ingrid E Scheffer

2017-02-01

Genetic epilepsy with febrile seizures plus (GEFS+) is a familial epilepsy syndrome characterized by heterogeneous phenotypes rang..

Tract-specific atrophy in focal epilepsy: Disease, genetics, or seizures?

David N Vaughan, David Raffelt, Evan Curwood, Meng-Han Tsai, Jacques-Donald Tournier, Alan Connelly, Graeme D Jackson

2017-02-01

OBJECTIVE: To investigate whether genetics, underlying pathology, or repeated seizures contribute to atrophy in specific white mat..

DEPDC5 as a potential therapeutic target for epilepsy

Kenneth A Myers, Ingrid E Scheffer

2017-01-01

INTRODUCTION: Dishevelled, Egl-10 and Pleckstrin (DEP) domain-containing protein 5 (DEPDC5) is a protein subunit of the GTPase-act..

Hierarchical disruption in the Bayesian brain: Focal epilepsy and brain networks

Amir Omidvarnia, Mangor Pedersen, Richard E Rosch, Karl J Friston, Graeme D Jackson

2017-01-01

In this opinion paper, we describe a combined view of functional and effective brain connectivity along with the free-energy princ..

Spontaneous brain network activity: Analysis of its temporal complexity

Mangor Pedersen, Amir Omidvarnia, Jennifer M Walz, Andrew Zalesky, Graeme D Jackson

2017-01-01

The brain operates in a complex way. The temporal complexity underlying macroscopic and spontaneous brain network activity is stil..

The dynamics of functional connectivity in neocortical focal epilepsy

Mangor Pedersen, Amir Omidvarnia, Evan K Curwood, Jennifer M Walz, Genevieve Rayner, Graeme D Jackson

2017-01-01

Focal epilepsy is characterised by paroxysmal events, reflecting changes in underlying local brain networks. To capture brain netw..

Evaluation of non-coding variation in GLUT1 deficiency

Yu-Chi Liu, Jia Wei Audrey Lee, Susannah T Bellows, John A Damiano, Saul A Mullen, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer, Michael S Hildebrand

2016-12-01

AIM: Loss-of-function mutations in SLC2A1, encoding glucose transporter-1 (GLUT-1), lead to dysfunction of glucose transport acros..

Is FGF13 a major contributor to genetic epilepsy with febrile seizures plus?

Kristin A Rigbye, Peter M van Hasselt, Rosemary Burgess, John A Damiano, Saul A Mullen, Slave Petrovski, Ram S Puranam, Koen LI van Gassen, Jozef Gecz, Ingrid E Scheffer, James O McNamara, Samuel F Berkovic, Michael S Hildebrand

2016-12-01

Mutation of fibroblast growth factor 13 (FGF13) has recently been implicated in genetic epilepsy with febrile seizures plus (GEFS+..

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

Mark A Corbett, Susannah T Bellows, Melody Li, Renee Carroll, Silvana Micallef, Gemma L Carvill, Candace T Myers, Katherine B Howell, Snezana Maljevic, Holger Lerche, Elena V Gazina, Heather C Mefford, Melanie Bahlo, Samuel F Berkovic, Steven Petrou, Ingrid E Scheffer, Jozef Gecz

2016-11-08

OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies..

MRI-negative temporal lobe epilepsy A network disorder of neocortical connectivity

David N Vaughan, Genevieve Rayner, Chris Tailby, Graeme D Jackson

2016-11-01

OBJECTIVE: To define the functional network changes that characterize MRI-negative temporal lobe epilepsy (TLE) and TLE with hippo..

Hippocampal malrotation is an anatomic variant and has no clinical significance in MRI-negative temporal lobe epilepsy

Meng-Han Tsai, David N Vaughan, Yuliya Perchyonok, Greg J Fitt, Ingrid E Scheffer, Samuel F Berkovic, Graeme D Jackson

2016-10-01

OBJECTIVE: There is considerable difficulty in diagnosing hippocampal malrotation (HIMAL), with different criteria of variable rel..

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2

Lyndal Henden, Saskia Freytag, Zaid Afawi, Sara Baldassari, Samuel F Berkovic, Francesca Bisulli, Laura Canafoglia, Giorgio Casari, Douglas Ewan Crompton, Christel Depienne, Jozef Gecz, Renzo Guerrini, Ingo Helbig, Edouard Hirsch, Boris Keren, Karl Martin Klein, Pierre Labauge, Eric LeGuern, Laura Licchetta, Davide Mei

2016-10-01

Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle je..

Diagnosis and misdiagnosis of adult neuronal ceroid lipofuscinosis (Kufs disease)

Samuel F Berkovic, John F Staropoli, Stirling Carpenter, Karen L Oliver, Stanislav Kmoch, Glenn W Anderson, John A Damiano, Michael S Hildebrand, Katherine B Sims, Susan L Cotman, Melanie Bahlo, Katherine R Smith, Maxime Cadieux-Dion, Patrick Cossette, Ivana Jedlickova, Anna Pristoupilova, Sara E Mole

2016-08-09

OBJECTIVE: To critically re-evaluate cases diagnosed as adult neuronal ceroid lipofuscinosis (ANCL) in order to aid clinicopatholo..

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

Michael S Hildebrand, Nicole G Griffin, John A Damiano, Elisa J Cops, Rosemary Burgess, Ezgi Ozturk, Nigel C Jones, Richard J Leventer, Jeremy L Freeman, A Simon Harvey, Lynette G Sadleir, Ingrid E Scheffer, Heather Major, Benjamin W Darbro, Andrew S Allen, David B Goldstein, John F Kerrigan, Samuel F Berkovic, Erin L Heinzen

2016-08-04

Hypothalamic hamartoma (HH) with gelastic epilepsy is a well-recognized drug-resistant epilepsy syndrome of early life.(1) Surgica..

TBC1D24 genotype-phenotype correlation: Epilepsies and other neurologic features

Simona Balestrini, Mathieu Milh, Claudia Castiglioni, Kevin Luethy, Mattea J Finelli, Patrik Verstreken, Aaron Cardon, Barbara Gnidovec Strazisar, J Lloyd Holder, Gaetan Lesca, Maria M Mancardi, Anne L Poulat, Gabriela M Repetto, Siddharth Banka, Leonilda Bilo, Laura E Birkeland, Friedrich Bosch, Knut Brockmann, J Helen Cross, Diane Doummar

2016-07-05

OBJECTIVE: To evaluate the phenotypic spectrum associated with mutations in TBC1D24. METHODS: We acquired new clinical, EEG, and n..

Dynamic regional phase synchrony (DRePS): An Instantaneous Measure of Local fMRI Connectivity Within Spatially Clustered Brain Areas

Amir Omidvarnia, Mangor Pedersen, Jennifer M Walz, David N Vaughan, David F Abbott, Graeme D Jackson

2016-05-01

Dynamic functional brain connectivity analysis is a fast expanding field in computational neuroscience research with the promise o..

A targeted resequencing gene panel for focal epilepsy

Michael S Hildebrand, Candace T Myers, Gemma L Carvill, Brigid M Regan, John A Damiano, Saul A Mullen, Mark R Newton, Umesh Nair, Elena V Gazina, Carol J Milligan, Christopher A Reid, Steven Petrou, Ingrid E Scheffer, Samuel F Berkovic, Heather C Mefford

2016-04-26

OBJECTIVES: We report development of a targeted resequencing gene panel for focal epilepsy, the most prevalent phenotypic group of..

Abnormal Brain Areas Common to the Focal Epilepsies: Multivariate Pattern Analysis of fMRI

Mangor Pedersen, Evan K Curwood, David N Vaughan, Amir H Omidvarnia, Graeme D Jackson

2016-04-01

Individuals with focal epilepsy have heterogeneous sites of seizure origin. However, there may be brain regions that are common to..

A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts

Thuong T Ha, Lynette G Sadleir, Simone A Mandelstam, Sarah J Paterson, Ingrid E Scheffer, Jozef Gecz, Mark A Corbett

2016-04-01

Mutations in COL4A1 are well described and result in brain abnormalities manifesting with severe neurological deficits including c..

Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

Richard D Bagnall, Douglas E Crompton, Slave Petrovski, Lien Lam, Carina Cutmore, Sarah I Garry, Lynette G Sadleir, Leanne M Dibbens, Anita Cairns, Sara Kivity, Zaid Afawi, Brigid M Regan, Johan Duflou, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

2016-04-01

OBJECTIVE: The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of ..

Polymicrogyric Cortex may Predispose to Seizures via Abnormal Network Topology: An fMRI Connectomics Study

Moksh Sethi, Mangor Pedersen, Graeme D Jackson

2016-03-01

Polymicrogyria is a significant malformation of cortical development with a high incidence of epilepsy and cognitive deficits. Gra..

Multiplex families with epilepsy Success of clinical and molecular genetic characterization

Zaid Afawi, Karen L Oliver, Sara Kivity, Aziz Mazarib, Ilan Blatt, Miriam Y Neufeld, Katherine L Helbig, Hadassa Goldberg-Stern, Adel J Misk, Rachel Straussberg, Simri Walid, Muhammad Mahajnah, Tally Lerman-Sagie, Bruria Ben-Zeev, Esther Kahana, Rafik Masalha, Uri Kramer, Dana Ekstein, Zamir Shorer, Robyn H Wallace

2016-02-23

OBJECTIVE: To analyze the clinical syndromes and inheritance patterns of multiplex families with epilepsy toward the ultimate aim ..

De Novo Loss-of-Function Mutations in USP9X Cause a Female-Specific Recognizable Syndrome with Developmental Delay and Congenital Malformations.

Margot RF Reijnders, Vasilios Zachariadis, Brooke Latour, Lachlan Jolly, Grazia M Mancini, Rolph Pfundt, Ka Man Wu, Conny MA van Ravenswaaij-Arts, Hermine E Veenstra-Knol, Britt-Marie M Anderlid, Stephen A Wood, Sau Wai Cheung, Angela Barnicoat, Frank Probst, Pilar Magoulas, Alice S Brooks, Helena Malmgren, Arja Harila-Saari, Carlo M Marcelis, Maaike Vreeburg

2016-02-04

Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males..

Pontine and cerebral atrophy in Lennox-Gastaut syndrome

Benjamin JC Newham, Evan K Curwood, Graeme D Jackson, John S Archer

2016-02-01

OBJECTIVES: Lennox-Gastaut syndrome (LGS) is a severe epilepsy of childhood onset associated with intellectual disability and mult..

Mutations in the Mammalian Target of Rapamycin Pathway Regulators NPRL2 and NPRL3 Cause Focal Epilepsy

Michael G Ricos, Bree L Hodgson, Tommaso Pippucci, Akzam Saidin, Yeh Sze Ong, Sarah E Heron, Laura Licchetta, Francesca Bisulli, Marta A Bayly, James Hughes, Sara Baldassari, Flavia Palombo, Margherita Santucci, Stefano Meletti, Samuel F Berkovic, Guido Rubboli, Paul Q Thomas, Ingrid E Scheffer, Paolo Tinuper, Joel Geoghegan

2016-01-01

OBJECTIVE: Focal epilepsies are the most common form observed and have not generally been considered to be genetic in origin. Rece..

The contribution of geometry to the human connectome

James A Roberts, Alistair Perry, Anton R Lord, Gloria Roberts, Philip B Mitchell, Robert E Smith, Fernando Calamante, Michael Breakspear

2016-01-01

The human connectome is a topologically complex, spatially embedded network. While its topological properties have been richly cha..

Loss of synaptic Zn2 transporter function increases risk of febrile seizures

Michael S Hildebrand, A Marie Phillips, Saul A Mullen, Paul A Adlard, Katia Hardies, John A Damiano, Verena Wimmer, Susannah T Bellows, Jacinta M McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid E Scheffer, Steven Petrou, Samuel F Berkovic, Christopher A Reid

2015-12-09

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Z..

A roadmap for precision medicine in the epilepsies

F Berkovic, IE Scheffer, S Petrou, N Delanty, TJ Dixon-Salazar, DJ Dlugos, I Helbig, WN Frankel, DB Goldstein, EL Heinzen, DH Lowenstein, HC Mefford, JM Parent, A Poduri, SF Traynelis

2015-12-01

Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view...

Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1.

Michael P Guy, Marie Shaw, Catherine L Weiner, Lynne Hobson, Zornitza Stark, Katherine Rose, Vera M Kalscheuer, Jozef Gecz, Eric M Phizicky

2015-12-01

tRNA modifications are crucial for efficient and accurate protein synthesis, and modification defects are frequently associated wi..

Brain regions with abnormal network properties in severe epilepsy of Lennox-Gastaut phenotype: Multivariate analysis of task-free fMRI

Mangor Pedersen, Evan K Curwood, John S Archer, David F Abbott, Graeme D Jackson

2015-11-01

OBJECTIVE: Lennox-Gastaut syndrome, and the similar but less tightly defined Lennox-Gastaut phenotype, describe patients with seve..

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

John A Damiano, Saul A Mullen, Michael S Hildebrand, Susannah T Bellows, Kate M Lawrence, Todor Arsov, Leanne Dibbens, Heather Major, Hans-Henrik M Dahl, Heather C Mefford, Benjamin W Darbro, Ingrid E Scheffer, Samuel F Berkovic

2015-11-01

The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially ..

Fourier Tract Sampling (FouTS): A framework for improved inference of white matter tracts from diffusion MRI by explicitly modelling tract volume

Thomas G Close, Jacques-Donald Tournier, Leigh A Johnston, Fernando Calamante, Iven Mareels, Alan Connelly

2015-10-15

Diffusion MRI tractography algorithm development is increasingly moving towards global techniques to incorporate "downstream" info..

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

Chuan Tan, Chloe Shard, Enzo Ranieri, Kim Hynes, Duyen H Pham, Damian Leach, Grant Buchanan, Mark Corbett, Cheryl Shoubridge, Raman Kumar, Evelyn Douglas, Lam S Nguyen, Jacinta Mcmahon, Lynette Sadleir, Nicola Specchio, Carla Marini, Renzo Guerrini, Rikke S Moller, Christel Depienne, Eric Haan

2015-09-15

Protocadherin 19 (PCDH19) female limited epilepsy (PCDH19-FE; also known as epilepsy and mental retardation limited to females, EF..

Mutations in KCNT1 cause a spectrum of focal epilepsies

Rikke S Moller, Sarah E Heron, Line HG Larsen, Chiao Xin Lim, Michael G Ricos, Marta A Bayly, Marjan JA van Kempen, Sylvia Klinkenberg, Ian Andrews, Kent Kelley, Gabriel M Ronen, David Callen, Jacinta M McMahon, Simone C Yendle, Gemma L Carvill, Heather C Mefford, Rima Nabbout, Annapurna Poduri, Pasquale Striano, Maria G Baglietto

2015-09-01

Autosomal dominant mutations in the sodium-gated potassium channel subunit gene KCNT1 have been associated with two distinct seizu..

PBT2 inhibits glutamate-induced excitotoxicity in neurons through metal-mediated preconditioning

Timothy Johanssen, Nuttawat Suphantarida, Paul S Donnelly, Xiang M Liu, Steven Petrou, Andrew F Hill, Kevin J Barnham

2015-09-01

Excitotoxicity is the pathological process by which neuronal death occurs as a result of excessive stimulation of receptors at the..

Mutation of the nuclear lamin gene LMNB2 in progressive myoclonus epilepsy with early ataxia

John A Damiano, Zaid Afawi, Melanie Bahlo, Monika Mauermann, Adel Misk, Todor Arsov, Karen L Oliver, Hans-Henrik M Dahl, A Eliot Shearer, Richard JH Smith, Nathan E Hall, Khalid Mahmood, Richard J Leventer, Ingrid E Scheffer, Mikko Muona, Anna-Elina Lehesjoki, Amos D Korczyn, Harald Herrmann, Samuel F Berkovic, Michael S Hildebrand

2015-08-15

We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with e..

PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy

Michael S Hildebrand, Rick Tankard, Elena V Gazina, John A Damiano, Kate M Lawrence, Hans-Henrik M Dahl, Brigid M Regan, Aiden Eliot Shearer, Richard JH Smith, Carla Marini, Renzo Guerrini, Angelo Labate, Antonio Gambardella, Paolo Tinuper, Laura Lichetta, Sara Baldassari, Francesca Bisulli, Tommaso Pippucci, Ingrid E Scheffer, Christopher A Reid

2015-08-01

OBJECTIVE: Nocturnal frontal lobe epilepsy (NFLE) can be sporadic or autosomal dominant; some families have nicotinic acetylcholin..

Electroclinical spectrum of the neuronal ceroid lipofuscinoses associated with CLN6 mutations

Laura Canafoglia, Isabella Gilioli, Federica Invernizzi, Vito Sofia, Valeria Fugnanesi, Michela Morbin, Luisa Chiapparini, Tiziana Granata, Simona Binelli, Vidmer Scaioli, Barbara Garavaglia, Nardo Nardocci, Samuel F Berkovic, Silvana Franceschetti

2015-07-28

OBJECTIVES: To describe the clinical and neurophysiologic patterns of patients with neuronal ceroid lipofuscinoses associated with..

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

Bronwyn E Grinton, Sarah E Heron, James T Pelekanos, Sameer M Zuberi, Sara Kivity, Zaid Afawi, Tristiana C Williams, Dan M Casalaz, Simone Yendle, Ilan Linder, Dorit Lev, Tally Lerman-Sagie, Stephen Malone, Haim Bassan, Hadassa Goldberg-Stern, Thorsten Stanley, Michael Hayman, Sophie Calvert, Amos D Korczyn, Michael Shevell

2015-07-01

OBJECTIVE: We evaluated seizure outcome in a large cohort of familial neonatal seizures (FNS), and examined phenotypic overlap wit..

Identical by descent L1CAM mutation in two apparently unrelated families with intellectual disability without L1 syndrome

Marie Shaw, Tzu Ying Yap, Lyndal Henden, Melanie Bahlo, Alison Gardner, Vera M Kalscheuer, Eric Haan, Louise Christie, Anna Hackett, Jozef Gecz

2015-06-01

Mutations in the L1 Cell Adhesion Molecule (L1CAM) gene (MIM#308840) cause a variety of X-linked recessive neurological disorders ..

"It's good to know": Experiences of gene identification and result disclosure in familial epilepsies

Danya F Vears, Karen L Dunn, Samantha A Wake, Ingrid E Scheffer

2015-05-01

Recognition of the role of genetics in the epilepsies has increased dramatically, impacting on clinical practice across many epile..

CHD2 myoclonic encephalopathy is frequently associated with self-induced seizures

Rhys H Thomas, Lin Mei Zhang, Gemma L Carvill, John S Archer, Sinead B Heavin, Simone A Mandelstam, Dana Craiu, Samuel F Berkovic, Deepak S Gill, Heather C Mefford, Ingrid E Scheffer

2015-03-03

OBJECTIVE: To delineate the phenotype of early childhood epileptic encephalopathy due to de novo mutations of CHD2, which encodes ..

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

Lily Paemka, Vinit B Mahajan, Salleh N Ehaideb, Jessica M Skeie, Men Chee Tan, Shu Wu, Allison J Cox, Levi P Sowers, Jozef Gecz, Lachlan Jolly, Polly J Ferguson, Benjamin Darbro, Amy Schneider, Ingrid E Scheffer, Gemma L Carvill, Heather C Mefford, Hatem El-Shanti, Stephen A Wood, J Robert Manak, Alexander G Bassuk

2015-03-01

Epilepsy is a common disabling disease with complex, multifactorial genetic and environmental etiology. The small fraction of epil..

GRIN2A An aptly named gene for speech dysfunction

Samantha J Turner, Angela K Mayes, Andrea Verhoeven, Simone A Mandelstam, Angela T Morgan, Ingrid E Scheffer

2015-02-10

OBJECTIVE: To delineate the specific speech deficits in individuals with epilepsy-aphasia syndromes associated with mutations in t..

Resting state functional connectivity changes induced by prior brain state are not network specific

Chris Tailby, Richard AJ Masterton, Jenny Y Huang, Graeme D Jackson, David F Abbott

2015-02-01

Resting state functional connectivity (rFC) is used to identify functionally related brain areas without requiring subjects to per..

A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy

Mikko Muona, Samuel F Berkovic, Leanne M Dibbens, Karen L Oliver, Snezana Maljevic, Marta A Bayly, Tarja Joensuu, Laura Canafoglia, Silvana Franceschetti, Roberto Michelucci, Salla Markkinen, Sarah E Heron, Michael S Hildebrand, Eva Andermann, Frederick Andermann, Antonio Gambardella, Paolo Tinuper, Laura Licchetta, Ingrid E Scheffer, Chiara Criscuolo

2015-01-01

Progressive myoclonus epilepsies (PMEs) are a group of rare, inherited disorders manifesting with action myoclonus, tonic-clonic s..

Increased segregation of brain networks in focal epilepsy: An fMRI graph theory finding

Mangor Pedersen, Amir H Omidvarnia, Jennifer M Walz, Graeme D Jackson

2015-01-01

Focal epilepsy is conceived of as activating local areas of the brain as well as engaging regional brain networks. Graph theory re..

16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy

Eva M Reinthaler, Dennis Lal, Sebastien Lebon, Michael S Hildebrand, Hans-Henrik M Dahl, Brigid M Regan, Martha Feucht, Hannelore Steinboeck, Birgit Neophytou, Gabriel M Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig

2014-11-15

Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a comple..

Mapping somatosensory connectivity in adult mice using diffusion MRI tractography and super-resolution track density imaging

Kay Richards, Fernando Calamante, Jacques-Donald Tournier, Nyoman D Kurniawan, Farnoosh Sadeghian, Alexander R Retchford, Gabriel Davis Jones, Christopher A Reid, David C Reutens, Roger Ordidge, Alan Connelly, Steven Petrou

2014-11-15

In this study we combined ultra-high field diffusion MRI fiber tracking and super-resolution track density imaging (TDI) to map th..

De-noising with a SOCK can improve the performance of event-related ICA

Kaushik Bhaganagarapu, Graeme D Jackson, David F Abbott

2014-09-19

Event-related ICA (eICA) is a partially data-driven analysis method for event-related fMRI that is particularly suited to analysis..

Genetics of epilepsy The testimony of twins in the molecular era

Lata Vadlamudi, Roger L Milne, Kate Lawrence, Sarah E Heron, Jazmin Eckhaus, Deborah Keay, Mary Connellan, Yvonne Torn-Broers, R Anne Howell, John C Mulley, Ingrid E Scheffer, Leanne M Dibbens, John L Hopper, Samuel F Berkovic

2014-09-16

OBJECTIVE: Analysis of twins with epilepsy to explore the genetic architecture of specific epilepsies, to evaluate the applicabili..

Genetic analysis of PHOX2B in sudden unexpected death in epilepsy cases

Richard D Bagnall, Douglas E Crompton, Carina Cutmore, Brigid M Regan, Samuel F Berkovic, Ingrid E Scheffer, Christopher Semsarian

2014-09-09

OBJECTIVE: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP). METHODS:..

Genetics of vasovagal syncope

Karl Martin Klein, Samuel F Berkovic

2014-09-01

INTRODUCTION: Vasovagal syncope (VVS) is the most frequent type of syncope and affects about 25% of the population. The role of ge..

Transition to adult life in the monogenic epilepsies

Ingrid E Scheffer, Charlotte Dravet

2014-08-01

There are many monogenic disorders associated with epilepsy that begin in childhood and persist into adult life. Each of these dis..

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

Karen L Oliver, Vesna Lukic, Natalie P Thorne, Samuel F Berkovic, Ingrid E Scheffer, Melanie Bahlo

2014-07-09

We apply a novel gene expression network analysis to a cohort of 182 recently reported candidate Epileptic Encephalopathy genes to..

A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation

Martin Puskarjov, Patricia Seja, Sarah E Heron, Tristiana C Williams, Faraz Ahmad, Xenia Iona, Karen L Oliver, Bronwyn E Grinton, Laszlo Vutskits, Ingrid E Scheffer, Steven Petrou, Peter Blaesse, Leanne M Dibbens, Samuel F Berkovic, Kai Kaila

2014-06-01

Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpola..

Does variation in NIPA2 contribute to genetic generalized epilepsy?

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Ingrid E Scheffer, Samuel F Berkovic

2014-05-01

Mutations in Mammalian Target of Rapamycin Regulator DEPDC5 Cause Focal Epilepsy with Brain Malformations

Ingrid E Scheffer, Sarah E Heron, Brigid M Regan, Simone Mandelstam, Douglas E Crompton, Bree L Hodgson, Laura Licchetta, Federica Provini, Francesca Bisulli, Lata Vadlamudi, Jozef Gecz, Alan Connelly, Paolo Tinuper, Michael G Ricos, Samuel F Berkovic, Leanne M Dibbens

2014-05-01

We recently identified DEPDC5 as the gene for familial focal epilepsy with variable foci and found mutations in >10% of small fami..

Reading difficulty is associated with failure to lateralize temporooccipital function

Chris Tailby, David L Weintrob, Michael M Saling, Carly Fitzgerald, Graeme D Jackson

2014-05-01

OBJECTIVE: Studies of focal epilepsy have revealed abnormalities of language organization; however, little attention has been paid..

KCNT1 Gain of Function in 2 Epilepsy Phenotypes is Reversed by Quinidine

Carol J Milligan, Melody Li, Elena V Gazina, Sarah E Heron, Umesh Nair, Chantel Trager, Christopher A Reid, Anu Venkat, Donald P Younkin, Dennis J Dlugos, Slave Petrovski, David B Goldstein, Leanne M Dibbens, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou

2014-04-01

OBJECTIVE: Mutations in KCNT1 have been implicated in autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and epilepsy of ..

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

Michael S Hildebrand, John A Damiano, Saul A Mullen, Susannah T Bellows, Karen L Oliver, Hans-Henrik M Dahl, Ingrid E Scheffer, Samuel F Berkovic

2014-02-01

The availability of glucose, and its glycolytic product lactate, for cerebral energy metabolism is regulated by specific brain tra..

Alterations in the optic radiations of very preterm children-Perinatal predictors and relationships with visual outcomes

Deanne K Thompson, Dolly Thai, Claire E Kelly, Alexander Leemans, Jacques-Donald Tournier, Michael J Kean, Katherine J Lee, Terrie E Inder, Lex W Doyle, Peter J Anderson, Rodney W Hunt

2014-01-01

Children born very preterm (VPT) are at risk for visual impairments, the main risk factors being retinopathy of prematurity and ce..

The piriform cortex and human focal epilepsy

David N Vaughan, Graeme D Jackson

2014-01-01

It is surprising that the piriform cortex, when compared to the hippocampus, has been given relatively little significance in huma..

Sample Size Estimates for Well-Powered Cross-Sectional Cortical Thickness Studies

Heath R Pardoe, David F Abbott, Graeme D Jackson

2013-11-01

INTRODUCTION: Cortical thickness mapping is a widely used method for the analysis of neuroanatomical differences between subject g..

Changes in singing performance and fMRI activation following right temporal lobe surgery

Sarah J Wilson, David F Abbott, Chris Tailby, Ellen C Gentle, Dawn L Merrett, Graeme D Jackson

2013-10-01

INTRODUCTION: This study arose in the context of having to estimate risk to the musical abilities of a trained singer (patient A.M..

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

Dalia Kasperaviciute, Claudia B Catarino, Mar Matarin, Costin Leu, Jan Novy, Anna Tostevin, Barbara Leal, Ellen VS Hessel, Kerstin Hallmann, Michael S Hildebrand, Hans-Henrik M Dahl, Mina Ryten, Daniah Trabzuni, Adaikalavan Ramasamy, Saud Alhusaini, Colin P Doherty, Thomas Dorn, Joerg Hansen, Guenter Kraemer, Bernhard J Steinhoff

2013-10-01

Epilepsy comprises several syndromes, amongst the most common being mesial temporal lobe epilepsy with hippocampal sclerosis. Seiz..

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

Gemma L Carvill, Brigid M Regan, Simone C Yendle, Brian J O'Roak, Natalia Lozovaya, Nadine Bruneau, Nail Burnashev, Adiba Khan, Joseph Cook, Eileen Geraghty, Lynette G Sadleir, Samantha J Turner, Meng-Han Tsai, Richard Webster, Robert Ouvrier, John A Damiano, Samuel F Berkovic, Jay Shendure, Michael S Hildebrand, Pierre Szepetowski

2013-09-01

Epilepsy-aphasia syndromes (EAS) are a group of rare, severe epileptic encephalopathies of unknown etiology with a characteristic ..

Networks underlying paroxysmal fast activity and slow spike and wave in Lennox-Gastaut syndrome

Neelan Pillay, John S Archer, Radwa AB Badawy, Danny F Flanagan, Samuel F Berkovic, Graeme Jackson

2013-08-13

OBJECTIVE: To use EEG-fMRI to determine which structures are critically involved in the generation of paroxysmal fast activity (PF..

An automated method for identifying artifact in independent component analysis of resting-state fMRI

Kaushik Bhaganagarapu, Graeme D Jackson, David F Abbott

2013-07-10

An enduring issue with data-driven analysis and filtering methods is the interpretation of results. To assist, we present an autom..

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

Gemma L Carvill, Sinead B Heavin, Simone C Yendle, Jacinta M McMahon, Brian J O'Roak, Joseph Cook, Adiba Khan, Michael O Dorschner, Molly Weaver, Sophie Calvert, Stephen Malone, Geoffrey Wallace, Thorsten Stanley, Ann ME Bye, Andrew Bleasel, Katherine B Howell, Sara Kivity, Mark T Mackay, Victoria Rodriguez-Casero, Richard Webster

2013-07-01

Epileptic encephalopathies are a devastating group of epilepsies with poor prognosis, of which the majority are of unknown etiolog..

Absence epilepsy subnetworks revealed by event-related independent components analysis of functional magnetic resonance imaging

Richard AJ Masterton, Patrick W Carney, David F Abbott, Graeme D Jackson

2013-05-01

PURPOSE: The aim of this study was to provide better spatiotemporal description of the brain activity observed during generalized ..

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

Leanne M Dibbens, Boukje de Vries, Simona Donatello, Sarah E Heron, Bree L Hodgson, Satyan Chintawar, Douglas E Crompton, James N Hughes, Susannah T Bellows, Karl Martin Klein, Petra MC Callenbach, Mark A Corbett, Alison E Gardner, Sara Kivity, Xenia Iona, Brigid M Regan, Claudia M Weller, Denis Crimmins, Terence J O'Brien, Rosa Guerrero-Lopez

2013-05-01

The majority of epilepsies are focal in origin, with seizures emanating from one brain region. Although focal epilepsies often ari..

Mutations in PRRT2 are not a common cause of infantile epileptic encephalopathies

Sarah E Heron, Yeh Sze Ong, Simone C Yendle, Jacinta M McMahon, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

2013-05-01

Heterozygous mutations in PRRT2 have recently been identified as the major cause of autosomal dominant benign familial infantile e..

Recent advances in the molecular genetics of epilepsy

Michael S Hildebrand, Hans-Henrik M Dahl, John Anthony Damiano, Richard JH Smith, Ingrid E Scheffer, Samuel F Berkovic

2013-05-01

Recent advances in molecular genetics have translated into the increasing utilisation of genetic testing in the routine clinical p..

Mapping brain activity using event-related independent components analysis (eICA): Specific advantages for EEG-fMRI

Richard AJ Masterton, Graeme D Jackson, David F Abbott

2013-04-15

Event-related analyses of functional MRI (fMRI) typically assume that the onset and offset of neuronal activity match stimuli onse..

Cathepsin F mutations cause Type B Kufs disease, an adult-onset neuronal ceroid lipofuscinosis

Katherine R Smith, Hans-Henrik M Dahl, Laura Canafoglia, Eva Andermann, John Damiano, Michela Morbin, Amalia C Bruni, Giorgio Giaccone, Patrick Cossette, Paul Saftig, Joachim Groetzinger, Michael Schwake, Frederick Andermann, John F Staropoli, Katherine B Sims, Sara E Mole, Silvana Franceschetti, Noreen A Alexander, Jonathan D Cooper, Harold A Chapman

2013-04-01

Kufs disease, an adult-onset neuronal ceroid lipofuscinosis, is challenging to diagnose and genetically heterogeneous. Mutations i..

'North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation

Lysa Boisse Lomax, Marta A Bayly, Helle Hjalgrim, Rikke S Moller, Annemarie M Vlaar, Kari M Aaberg, Iris Marquardt, Luke C Gandolfo, Michel Willemsen, Erik-Jan Kamsteeg, John D O'Sullivan, G Christoph Korenke, Bastiaan R Bloem, Irenaeus F de Coo, Judith MA Verhagen, Ines Said, Trine Prescott, Asbjorg Stray-Pedersen, Magnhild Rasmussen, Danya F Vears

2013-04-01

We previously identified a homozygous mutation in the Golgi SNAP receptor complex 2 gene (GOSR2) in six patients with progressive ..

Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy

Sarah E Heron, Katherine R Smith, Melanie Bahlo, Lino Nobili, Esther Kahana, Laura Licchetta, Karen L Oliver, Aziz Mazarib, Zaid Afawi, Amos Korczyn, Giuseppe Plazzi, Steven Petrou, Samuel F Berkovic, Ingrid E Scheffer, Leanne M Dibbens

2012-11-01

We performed genomic mapping of a family with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) and intellectual and psy..

PRRT2 phenotypic spectrum includes sporadic and fever-related infantile seizures

Ingrid E Scheffer, Bronwyn E Grinton, Sarah E Heron, Sara Kivity, Zaid Afawi, Xenia Iona, Hadassa Goldberg-Stern, Maria Kinali, Ian Andrews, Renzo Guerrini, Carla Marini, Lynette G Sadleir, Samuel F Berkovic, Leanne M Dibbens

2012-11-01

OBJECTIVE: Benign familial infantile epilepsy (BFIE) is an autosomal dominant epilepsy syndrome characterized by afebrile seizures..

Familial focal epilepsy with variable foci mapped to chromosome 22q12: Expansion of the phenotypic spectrum

Karl Martin Klein, Terence J O'Brien, Kavita Praveen, Sarah E Heron, John C Mulley, Simon Foote, Samuel F Berkovic, Ingrid E Scheffer

2012-08-01

We aimed to refine the phenotypic spectrum and map the causative gene in two families with familial focal epilepsy with variable f..

High spatial and temporal resolution wide-field imaging of neuron activity using quantum NV-diamond

LT Hall, GCG Beart, EA Thomas, DA Simpson, LP McGuinness, JH Cole, JH Manton, RE Scholten, F Jelezko, Joerg Wrachtrup, S Petrou, LCL Hollenberg

2012-05-09

A quantitative understanding of the dynamics of biological neural networks is fundamental to gaining insight into information proc..

PRRT2 Mutations Cause Benign Familial Infantile Epilepsy and Infantile Convulsions with Choreoathetosis Syndrome

Sarah E Heron, Bronwyn E Grinton, Sara Kivity, Zaid Afawi, Sameer M Zuberi, James N Hughes, Clair Pridmore, Bree L Hodgson, Xenia Iona, Lynette G Sadleir, James Pelekanos, Eric Herlenius, Hadassa Goldberg-Stern, Haim Bassan, Eric Haan, Amos D Korczyn, Alison E Gardner, Mark A Corbett, Jozef Gecz, Paul Q Thomas

2012-01-13

Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inh..