EPILEPSY: A 'PATIENT TO BENCH AND BACK TO PATIENT' PROGRAM ABOUT UNDERSTANDING THE CAUSES OF SEIZURE DISORDERS.
Grant number: 628952 | Funding period: 2011 - 2015
Related publications (116)
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
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
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
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
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
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
<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
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
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
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
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
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
It has been hypothesized that resting state networks (RSNs) likely display unique temporal complexity fingerprints, quantified by ..
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
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
Abstract MRtrix3 is an open-source, cross-platform software package for medical image processing, analysis and visualization, with..
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
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
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
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
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
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
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
BACKGROUND: KANSL1 haploinsufficiency causes Koolen-de Vries syndrome (KdVS), characterized by dysmorphic features and intellectua..
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
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
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
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
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
Higher cognitive functions depend upon dynamically unfolding brain network interactions. Autobiographical recollection - the auton..
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
OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK),..
Spatiotemporal mapping of epileptic spikes using simultaneous EEG-functional MRI
Jennifer M Walz, Mangor Pedersen, Amir Omidvarnia, Mira Semmelroch, Graeme D Jackson
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
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
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
OBJECTIVE: To investigate whether genetics, underlying pathology, or repeated seizures contribute to atrophy in specific white mat..
Hierarchical disruption in the Bayesian brain: Focal epilepsy and brain networks
Amir Omidvarnia, Mangor Pedersen, Richard E Rosch, Karl J Friston, Graeme D Jackson
In this opinion paper, we describe a combined view of functional and effective brain connectivity along with the free-energy princ..
The dynamics of functional connectivity in neocortical focal epilepsy
Mangor Pedersen, Amir Omidvarnia, Evan K Curwood, Jennifer M Walz, Genevieve Rayner, Graeme D Jackson
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
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
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
OBJECTIVE: To identify the genetic basis of a family segregating episodic ataxia, infantile seizures, and heterogeneous epilepsies..
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
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
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
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
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
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
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
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
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
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
OBJECTIVE: The leading cause of epilepsy-related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of ..
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
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
Mutations in more than a hundred genes have been reported to cause X-linked recessive intellectual disability (ID) mainly in males..
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
In this study we combined ultra-high field diffusion MRI fiber tracking and super-resolution track density imaging (TDI) to map th..
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
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
OBJECTIVE: To determine the contribution of sequence variations in PHOX2B to sudden unexpected death in epilepsy (SUDEP). METHODS:..
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
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
Genetic variation in SLC12A5 which encodes KCC2, the neuron-specific cation-chloride cotransporter that is essential for hyperpola..
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
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
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
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
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
Children born very preterm (VPT) are at risk for visual impairments, the main risk factors being retinopathy of prematurity and ce..
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
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
Benign familial infantile epilepsy (BFIE) is a self-limited seizure disorder that occurs in infancy and has autosomal-dominant inh..