Shared and distinct ultra-rare genetic risk for diverse epilepsies: A whole-exome sequencing study of 54,423 individuals across multiple genetic ancestries

por Chen, Siwei, Neale, Benjamin M., Berkovic, Samuel F.
Publicado 2023

Extended follow‐up after anterior temporal lobectomy demonstrates seizure recurrence 20+ years postsurgery

por McIntosh, Anne M., Wynd, Alex W., Berkovic, Samuel F.
Publicado 2022

State transitions through inhibitory interneurons in a cortical network model

por Bryson, Alexander, Berkovic, Samuel F., Petrou, Steven, Grayden, David B.
Publicado 2021

ExACtly zero or once: A clinically helpful guide to assessing genetic variants in mild epilepsies

por Bennett, Caitlin A., Petrovski, Slavé, Oliver, Karen L., Berkovic, Samuel F.
Publicado 2017

The genetic basis of music ability

por Tan, Yi Ting, McPherson, Gary E., Peretz, Isabelle, Berkovic, Samuel F., Wilson, Sarah J.
Publicado 2014

In silico prioritization based on coexpression can aid epileptic encephalopathy gene discovery

por Oliver, Karen L., Lukic, Vesna, Freytag, Saskia, Scheffer, Ingrid E., Berkovic, Samuel F., Bahlo, Melanie
Publicado 2016

Epilepsy risk in offspring of affected parents; a cohort study of the “maternal effect” in epilepsy

por Dreier, Julie W., Ellis, Colin A., Berkovic, Samuel F., Cotsapas, Chris, Ottman, Ruth, Christensen, Jakob
Publicado 2020

Harnessing Gene Expression Networks to Prioritize Candidate Epileptic Encephalopathy Genes

por Oliver, Karen L., Lukic, Vesna, Thorne, Natalie P., Berkovic, Samuel F., Scheffer, Ingrid E., Bahlo, Melanie
Publicado 2014

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

por McGlade, Amelia, Myers, Kenneth A., Berkovic, Samuel F., Scheffer, Ingrid E., Petrovski, Slavé, Hildebrand, Michael S.
Publicado 2017

The Role of Seizure-Related SEZ6 as a Susceptibility Gene in Febrile Seizures

por Mulley, John C., Iona, Xenia, Hodgson, Bree, Heron, Sarah E., Berkovic, Samuel F., Scheffer, Ingrid E., Dibbens, Leanne M.
Publicado 2011

Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation

por Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F., Liu, Liping, Ascher, David B., Balding, David J., Petrovski, Slavé
Publicado 2017

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

por Myers, Kenneth A., McGlade, Amelia, Neubauer, Bernd A., Lal, Dennis, Berkovic, Samuel F., Scheffer, Ingrid E., Hildebrand, Michael S.
Publicado 2018

Progressive myoclonus epilepsy associated with SACS gene mutations

por Nascimento, Fábio A., Canafoglia, Laura, Aljaafari, Danah, Muona, Mikko, Lehesjoki, Anna-Elina, Berkovic, Samuel F., Franceschetti, Silvana, Andrade, Danielle M.
Publicado 2016

Human GABRG2 generalized epilepsy: Increased somatosensory and striatothalamic connectivity

por Pedersen, Mangor, Kowalczyk, Magdalena, Omidvarnia, Amir, Perucca, Piero, Gooley, Samuel, Petrou, Steven, Scheffer, Ingrid E., Berkovic, Samuel F., Jackson, Graeme D.
Publicado 2019

Novel Missense CACNA1G Mutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

por Berecki, Géza, Helbig, Katherine L., Ware, Tyson L., Grinton, Bronwyn, Skraban, Cara M., Marsh, Eric D., Berkovic, Samuel F., Petrou, Steven
Publicado 2020

Adjunctive Transdermal Cannabidiol for Adults With Focal Epilepsy: A Randomized Clinical Trial

por O’Brien, Terence J., Berkovic, Samuel F., French, Jacqueline A., Messenheimer, John A., Sebree, Terri B., Bonn-Miller, Marcel O., Gutterman, Donna L.
Publicado 2022

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

por Bleakley, Lauren E., Soh, Ming S., Bagnall, Richard D., Sadleir, Lynette G., Gooley, Samuel, Semsarian, Christopher, Scheffer, Ingrid E., Berkovic, Samuel F., Reid, Christopher A.
Publicado 2020

Nomenclature of Genetically Determined Myoclonus Syndromes: Recommendations of the International Parkinson and Movement Disorder Society Task Force

por van der Veen, Sterre, Zutt, Rodi, Klein, Christine, Marras, Connie, Berkovic, Samuel F., Caviness, John N., Shibasaki, Hiroshi, de Koning, Tom J., Tijssen, Marina A.J.
Publicado 2019

Identification of a recurrent mosaic KRAS variant in brain tissue from an individual with nevus sebaceous syndrome

por Green, Timothy E., MacGregor, Duncan, Carden, Susan M., Harris, Rebekah V., Hewitt, Chelsee A., Berkovic, Samuel F., Penington, Anthony J., Scheffer, Ingrid E., Hildebrand, Michael S.
Publicado 2021

Abnormal Processing of Autophagosomes in Transformed B Lymphocytes from SCARB2-Deficient Subjects

por Gleich, Kurt, Desmond, Michael J., Lee, Darren, Berkovic, Samuel F., Dibbens, Leanne M., Katerelos, Marina, Bayly, Marta A., Fraser, Scott A., Martinello, Paul, Vears, Danya F., Mount, Peter, Power, David A.
Publicado 2013