HUMAN EPILEPSY: UNDERSTANDING BIOLOGY TO IMPROVE OUTCOMES

Contribution of rare genetic variants to drug response in absence epilepsy.

Kenneth A Myers, Mark F Bennett, Bronwyn E Grinton, Gabriel Dabscheck, Eunice K Chan, Luis E Bello-Espinosa, Lynette G Sadleir, Sabrina D'Alfonso, Amy L Schneider, John A Damiano, Michael S Hildebrand, Melanie Bahlo, Samuel F Berkovic, Jeffrey Buchhalter, Ingrid E Scheffer

2021-02-01

OBJECTIVE: We investigated the possible significance of rare genetic variants to response to valproic acid (VPA) and ethosuximide ..

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, Sarah E Buerki, Fiona Gardiner, J Helen Cross, Benedicte Heron, Anna Kaminska, Christian M Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C Mefford, Cyrill Mignot, Matthieu Milh, Amelie Piton, Ronit M Pressler, Susanne Ruf, Lynette G Sadleir, Anne de Saint Martin

2021-01-07

OBJECTIVE: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clini..

Teleneuropsychology in the time of COVID-19: The experience of The Australian Epilepsy Project

Chris Tailby, Alana J Collins, David N Vaughan, David F Abbott, Marie O'Shea, Christoph Helmstaedter, Graeme D Jackson

2020-12-01

PURPOSE: Traditional neuropsychological testing carries elevated COVID-19 risk for both examinee and examiner. Here we describe ho..

Transcriptome analysis of a ring chromosome 20 patient cohort

Kenneth A Myers, Mark F Bennett, Michael S Hildebrand, Matthew J Coleman, Geyu Zhou, Georgie Hollingsworth, Anita Cairns, Kate Riney, Samuel F Berkovic, Melanie Bahlo, Ingrid E Scheffer

2020-11-18

Ring chromosomes occur when the ends of normally rod-shaped chromosomes fuse. In ring chromosome 20 (ring 20), intellectual disabi..

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrian Palencia-Campos, Phillip C Aoto, Erik MF Machal, Ana Rivera-Barahona, Patricia Soto-Bielicka, Daniela Bertinetti, Blaine Baker, Lily Vu, Francesca Piceci-Sparascio, Isabella Torrente, Eveline Boudin, Silke Peeters, Wim Van Hul, Celine Huber, Dominique Bonneau, Michael S Hildebrand, Matthew Coleman, Melanie Bahlo, Mark F Bennett, Amy L Schneider

2020-11-05

PRKACA and PRKACB code for two catalytic subunits (Cα and Cβ) of cAMP-dependent protein kinase (PKA), a pleiotropic holoenzyme tha..

Downregulation of the GHRH/GH/IGF1 axis in a mouse mode of Borjeson-Forssman-Lehman syndrome

Helen M McRae, Samantha Eccles, Lachlan Whitehead, Warren S Alexander, Jozef Gecz, Tim Thomas, Anne K Voss

2020-11-01

Börjeson-Forssman-Lehmann syndrome (BFLS) is an intellectual disability and endocrine disorder caused by plant homeodomain finger ..

Network-based atrophy modeling in the common epilepsies: A worldwide ENIGMA study

Sara Lariviere, Raul Rodriguez-Cruces, Jessica Royer, Maria Eugenia Caligiuri, Antonio Gambardella, Luis Concha, Simon S Keller, Fernando Cendes, Clarissa Yasuda, Leonardo Bonilha, Ezequiel Gleichgerrcht, Niels K Focke, Martin Domin, Felix von Podewills, Soenke Langner, Christian Rummel, Roland Wiest, Pascal Martin, Raviteja Kotikalapudi, Terence J O'Brien

2020-11-01

Epilepsy is increasingly conceptualized as a network disorder. In this cross-sectional mega-analysis, we integrated neuroimaging a..

Cardiorespiratory and autonomic function in epileptic seizures: A video-EEG monitoring study

Shobi Sivathamboo, Thomas N Constantino, Zhibin Chen, Paul B Sparks, Jeremy Goldin, Dennis Velakoulis, Nigel C Jones, Patrick Kwan, Vaughan G Macefield, Terence J O'Brien, Piero Perucca

2020-10-01

PURPOSE: Seizure-induced cardiorespiratory and autonomic dysfunction has long been recognized, and growing evidence points to its ..

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders

Tianyun Wang, Kendra Hoekzema, Davide Vecchio, Huidan Wu, Arvis Sulovari, Bradley P Coe, Madelyn A Gillentine, Amy B Wilfert, Luis A Perez-Jurado, Malin Kvarnung, Yoeri Sleyp, Rachel K Earl, Jill A Rosenfeld, Madeleine R Geisheker, Lin Han, Bing Du, Chris Barnett, Elizabeth Thompson, Marie Shaw, Renee Carroll

2020-10-01

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an excess of de novo mutations (DNMs) but the ..

Genetic Contributions to Acquired Epilepsies

Piero Perucca, Ingrid E Scheffer

2020-09-29

Whether genetic factors contribute to acquired epilepsies has long been controversial. Supporters observe that, among individuals ..

Dynamic analysis of fMRI activation during epileptic spikes can help identify the seizure origin

Magdalena A Kowalczyk, Amir Omidvarnia, Thijs Dhollander, Graeme D Jackson

2020-09-21

OBJECTIVE: We use the dynamic electroencephalography-functional magnetic resonance imaging (EEG-fMRI) method to incorporate variab..

White matter abnormalities across different epilepsy syndromes in adults: an ENIGMA-Epilepsy study

Sean N Hatton, Khoa H Huynh, Leonardo Bonilha, Eugenio Abela, Saud Alhusaini, Andre Altmann, Marina KM Alvim, Akshara R Balachandra, Emanuele Bartolini, Benjamin Bender, Neda Bernasconi, Andrea Bernasconi, Boris Bernhardt, Nuria Bargallo, Benoit Caldairou, Maria E Caligiuri, Sarah JA Carr, Gianpiero L Cavalleri, Fernando Cendes, Luis Concha

2020-08-01

The epilepsies are commonly accompanied by widespread abnormalities in cerebral white matter. ENIGMA-Epilepsy is a large quantitat..

Neurodegenerative pathways as targets for acquired epilepsy therapy development.

Pablo M Casillas-Espinosa, Idrish Ali, Terence J O'Brien

2020-06-01

There is a growing body of clinical and experimental evidence that neurodegenerative diseases and epileptogenesis after an acquire..

The ENIGMA-Epilepsy working group: Mapping disease from large data sets

Sanjay M Sisodiya, Christopher D Whelan, Sean N Hatton, Khoa Huynh, Andre Altmann, Mina Ryten, Annamaria Vezzani, Maria Eugenia Caligiuri, Angelo Labate, Antonio Gambardella, Victoria Ives-Deliperi, Stefano Meletti, Brent C Munsell, Leonardo Bonilha, Manuela Tondelli, Michael Rebsamen, Christian Rummel, Anna Elisabetta Vaudano, Roland Wiest, Akshara R Balachandra

2020-05-29

Epilepsy is a common and serious neurological disorder, with many different constituent conditions characterized by their electro ..

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

Kristy L Kolc, Lynette G Sadleir, Christel Depienne, Carla Marini, Ingrid E Scheffer, Rikke S Moller, Marina Trivisano, Nicola Specchio, Duyen Pham, Raman Kumar, Rachel Roberts, Jozef Gecz

2020-05-04

Protocadherin-19 (PCDH19) pathogenic variants cause an early-onset seizure disorder called girls clustering epilepsy (GCE). GCE is..

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..

Antiepileptic Drug Teratogenicity and De Novo Genetic Variation Load

Piero Perucca, Alison Anderson, Dana Jazayeri, Alison Hitchcock, Janet Graham, Marian Todaro, Torbjorn Tomson, Dina Battino, Emilio Perucca, Meritxell Martinez Ferri, Anne Rochtus, Lieven Lagae, Maria Paola Canevini, Elena Zambrelli, Ellen Campbell, Bobby PC Koeleman, Ingrid E Scheffer, Samuel F Berkovic, Patrick Kwan, Sanjay M Sisodiya

2020-04-15

OBJECTIVE: The mechanisms by which antiepileptic drugs (AEDs) cause birth defects (BDs) are unknown. Data suggest that AED-induced..

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

Mark F Bennett, Karen L Oliver, Brigid M Regan, Susannah T Bellows, Amy L Schneider, Haloom Rafehi, Neblina Sikta, Douglas E Crompton, Matthew Coleman, Michael S Hildebrand, Mark A Corbett, Thessa Kroes, Jozef Gecz, Ingrid E Scheffer, Samuel F Berkovic, Melanie Bahlo

2020-03-16

Deciphering the concepts behind "Epileptic encephalopathy" and "Developmental and epileptic encephalopathy"

Ingrid E Scheffer, Jianxiang Liao

2020-01-01

The recent introduction of the term 'developmental and epileptic encephalopathy' by the International League Against Epilepsy has ..

SCN1A Variants in vaccine-related febrile seizures: A prospective study

John A Damiano, Lucy Deng, Wenhui Li, Rosemary Burgess, Amy L Schneider, Nigel W Crawford, Jim Buttery, Michael Gold, Peter Richmond, Kristine K Macartney, Michael S Hildebrand, Ingrid E Scheffer, Nicholas Wood, Samuel F Berkovic

2019-12-12

OBJECTIVE: Febrile seizures may follow vaccination. Common variants in the sodium channel gene, SCN1A, are associated with febrile..

Clinical benefit of presurgical EEG-fMRI in difficult-to-localize focal epilepsy: A single-institution retrospective review

Magdalena A Kowalczyk, Amir Omidvarnia, David F Abbott, Chris Tailby, David N Vaughan, Graeme D Jackson

2019-12-02

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..

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini

2019-11-20

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..

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..

Disease-modifying effects of a novel T-type calcium channel antagonist, Z944, in a model of temporal lobe epilepsy

Pablo M Casillas-Espinosa, Sandy R Shultz, Emma L Braine, Nigel C Jones, Terrance P Snutch, Kim L Powell, Terence J O'Brien

2019-11-01

We evaluated whether pharmacologically targeting T-type Ca2+ channels with Z944, a potent and selective antagonist, has disease-mo..

Anatomical imaging of the piriform cortex in epilepsy

James C Young, David N Vaughan, Helen M Nasser, Graeme D Jackson

2019-10-01

The piriform cortex is a distinct brain region that plays a key role in the sense of smell. The piriform cortex is the major part ..

Speech and language in bilateral perisylvian polymicrogyria: a systematic review

Ruth O Braden, Richard J Leventer, Anna Jansen, Ingrid E Scheffer, Angela T Morgan

2019-10-01

AIM: We aimed to systematically review the speech production, language, and oral function phenotype of bilateral perisylvian polym..

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania.

Tyson L Ware, Shannon R Huskins, Bronwyn E Grinton, Yu-Chi Liu, Mark F Bennett, Michael Harvey, Jacinta McMahon, Danae Andreopoulos-Malikotsinas, Melanie Bahlo, Katherine B Howell, Michael S Hildebrand, John A Damiano, Alexander Rosenfeld, Mark T Mackay, Simone Mandelstam, Richard J Leventer, A Simon Harvey, Jeremy L Freeman, Ingrid E Scheffer, Dean L Jones

2019-09-01

We sought to determine incidence, etiologies, and yield of genetic testing in infantile onset developmental and epileptic encephal..

Genetic absence epilepsy: Effective connectivity from piriform cortex to mediodorsal thalamus

James C Young, Antonio G Paolini, Mangor Pedersen, Graeme D Jackson

2019-08-01

OBJECTIVE: The objective of the study was to quantify effective connectivity from the piriform cortex to mediodorsal thalamus, in ..

Multiunit cluster firing patterns of piriform cortex and mediodorsal thalamus in absence epilepsy

James C Young, Helen M Nasser, Pablo M Casillas-Espinosa, Terence J O'Brien, Graeme D Jackson, Antonio G Paolini

2019-08-01

OBJECTIVE: The objective of the study were to investigate patterns of multiunit cluster firing in the piriform cortex (PC) and med..

Acquired cardiac channelopathies in epilepsy: Evidence, mechanisms, and clinical significance

Michael CH Li, Terence J O'Brien, Marian Todaro, Kim L Powell

2019-07-29

There is growing evidence that cardiac dysfunction in patients with chronic epilepsy could play a pathogenic role in sudden unexpe..

A set of regulatory genes co-expressed in embryonic human brain is implicated in disrupted speech development

Else Eising, Amaia Carrion-Castillo, Arianna Vino, Edythe A Strand, Kathy J Jakielski, Thomas S Scerri, Michael S Hildebrand, Richard Webster, Alan Ma, Bernard Mazoyer, Clyde Francks, Melanie Bahlo, Ingrid E Scheffer, Angela T Morgan, Lawrence D Shriberg, Simon E Fisher

2019-07-01

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations

Jillian M Cameron, Snezana Maljevic, Umesh Nair, Ye Htet Aung, Benjamin Cogne, Stephane Bezieau, Edward Blair, Bertrand Isidor, Christiane Zweier, Andre Reis, Mary Kay Koenig, Timothy Maarup, Dean Sarco, Alexandra Afenjar, AHM Mahbubul Huq, Mary Kukolich, Thierry Billette de Villemeur, Caroline Nava, Benedicte Heron, Steven Petrou

2019-07-01

Is removal of weak connections necessary for graph-theoretical analysis of dense weighted structural connectomes from diffusion MRI?

Oren Civier, Robert Elton Smith, Chun-Hung Yeh, Alan Connelly, Fernando Calamante

2019-07-01

Dorsal language stream anomalies in an inherited speech disorder

Frederique J Liegeois, Samantha J Turner, Angela Mayes, Alexandra F Bonthrone, Amber Boys, Libby Smith, Bronwyn Parry-Fielder, Simone Mandelstam, Megan Spencer-Smith, Melanie Bahlo, Tom S Scerri, Michael S Hildebrand, Ingrid E Scheffer, Alan Connelly, Angela T Morgan

2019-04-01

Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection

Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique RM Vlaskamp, Ying Zhu, Heather Mefford, Michael F Buckley, Melanie Bahlo, Ingrid E Scheffer, Marcel E Dinger, Tony Roscioli

2019-04-01

Towards fast and reliable simultaneous EEG-fMRI analysis of epilepsy with automatic spike detection

Amir Omidvarnia, Magdalena A Kowalczyk, Mangor Pedersen, Graeme D Jackson

2019-03-01

Objective The process of manually marking up epileptic spikes for simultaneous electroencephalogram (EEG) and resting state functi..

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

Kristy L Kolc, Lynette G Sadleir, Ingrid E Scheffer, Atma Ivancevic, Rachel Roberts, Duyen H Pham, Jozef Gecz

2019-02-01

Kufs disease due to mutation of CLN6: clinical, pathological and molecular genetic features

Samuel F Berkovic, Karen L Oliver, Laura Canafoglia, Penina Krieger, John A Damiano, Michael S Hildebrand, Michela Morbin, Danya F Vears, Vito Sofia, Loretta Giuliano, Barbara Garavaglia, Alessandro Simonati, Filippo M Santorelli, Antonio Gambardella, Angelo Labate, Vincenzo Belcastro, Barbara Castellotti, Cigdem Ozkara, Adam Zeman, Julia Rankin

2019-01-01

Heart rate variability measurement in epilepsy: How can we move from research to clinical practice?

Kenneth A Myers, Shobi Sivathamboo, Piero Perucca

2018-12-01

Range Entropy: A Bridge between Signal Complexity and Self-Similarity

Amir Omidvarnia, Mostefa Mesbah, Mangor Pedersen, Graeme Jackson

2018-12-01

Electrical stimulation of the piriform cortex for the treatment of epilepsy: A review of the supporting evidence

James C Young, David N Vaughan, Antonio G Paolini, Graeme D Jackson

2018-11-01

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

Raman Kumar, Alison Gardner, Claire C Homan, Evelyn Douglas, Heather Mefford, Dagmar Wieczorek, Hermann-Josef Luedecke, Zornitza Stark, Simon Sadedin, Catherine Bearce Nowak, Jessica Douglas, Gretchen Parsons, Paul Mark, Lourdes Loidi, Gail E Herman, Theresa Mihalic Mosher, Meredith K Gillespie, Lauren Brady, Mark Tarnopolsky, Irene Madrigal

2018-08-01

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

Kenneth A Myers, Luis E Bello-Espinosa, Joseph D Symonds, Sameer M Zuberi, Robin Clegg, Lynette G Sadleir, Jeffrey Buchhalter, Ingrid E Scheffer

2018-07-01

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

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

Hemiconvulsion-hemiplegia-epilepsy evolving to contralateral hemi-Lennox-Gastaut-like phenotype

Kenneth A Myers, Ingrid E Scheffer, John S Archer

2018-05-01

Myoclonic absence seizures with complex gestural automatisms

Kenneth A Myers, Ingrid E Scheffer

2018-05-01

Childhood-onset generalized epilepsy in Bainbridge-Ropers syndrome

Kenneth A Myers, Susan M White, Shehla Mohammed, Kay A Metcalfe, Andrew E Fry, Elisabeth Wraige, Pradeep C Vasudevan, Meena Balasubramanian, Ingrid E Scheffer

2018-02-01

Mosaic uniparental disomy results in GM1 gangliosidosis with normal enzyme assay

Kenneth A Myers, Mark F Bennett, Chung W Chow, Susan M Carden, Simone A Mandelstam, Melanie Bahlo, Ingrid E Scheffer

2018-01-01

Sensitive quantitative detection of somatic mosaic mutation in "double cortex" syndrome

John A Damiano, Hongdo Do, Ezgi Ozturk, Rosemary Burgess, Renate Kalnins, Nigel C Jones, Alexander Dobrovic, Samuel F Berkovic, Michael S Hildebrand

2017-12-01

Track-weighted dynamic functional connectivity (TW-dFC): a new method to study time-resolved functional connectivity

Fernando Calamante, Robert E Smith, Xiaoyun Liang, Andrew Zalesky, Alan Connelly

2017-11-01

Familial Mesial Temporal Lobe Epilepsy and the Borderland of Deja Vu

Piero Perucca, Douglas E Crompton, Susannah T Bellows, Anne M McIntosh, Tomas Kalincik, Mark R Newton, Frank JE Vajda, Ingrid E Scheffer, Patrick Kwan, Terence J O'Brien, K Meng Tan, Samuel F Berkovic

2017-08-01

Evaluation of GLUT1 variation in non-acquired focal epilepsy

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

2017-07-01

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

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases

Holly AF Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans, Laura Vives, Janice Lin, Tychele N Turner, Gijs Santen, Claudia Ruivenkamp, Marjolein Kriek, Arie van Haeringen, Emmelien Aten, Kathryn Friend, Jan Liebelt

2017-04-01

The diminishing dominance of the dominant hemisphere: Language fMRI in focal epilepsy

Chris Tailby, David F Abbott, Graeme D Jackson

2017-01-01

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