Sam F Berkovic

Affiliations
  • Department of Medicine, Epilepsy Research Centre, University of Melbourne, Austin Health, Heidelberg, VIC 3084, Australia.

Publications (70)

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

Annals of neurology
Avec: Colin A Ellis , Leonid Churilov , Michael P Epstein , Sharon X Xie , Susannah T Bellows , Ruth Ottman , Samuel F Berkovic , Auteur inconnu

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

Nature communications
Avec: 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 , Anthony Correll , Rachael Catford , Francesca Bisulli , Shreyasee Chakraborty , Sara Baldassari , Paolo Tinuper , Kirston Barton , Shaun Carswell , Martin Smith , Alfredo Berardelli , Renee Carroll , Alison Gardner , Kathryn L Friend , Ilan Blatt , Michele Iacomino , Carlo Di Bonaventura , Salvatore Striano , Julien Buratti , Boris Keren , Caroline Nava , Sylvie Forlani , Gabrielle Rudolf , Edouard Hirsch , Eric Leguern , Pierre Labauge , Simona Balestrini , Josemir W Sander , Zaid Afawi , Ingo Helbig , Hiroyuki Ishiura , Shoji Tsuji , Sanjay M Sisodiya , Giorgio Casari , Lynette G Sadleir , Riaan van Coller , Marina A J Tijssen , Karl Martin Klein , Arn M J M van den Maagdenberg , Federico Zara , Renzo Guerrini , Samuel F Berkovic , Tommaso Pippucci , Laura Canafoglia , Melanie Bahlo , Pasquale Striano , Ingrid E Scheffer , Francesco Brancati , Christel Depienne , Jozef Gecz

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

Movement disorders : official journal of the Movement Disorder Society
Avec: Sterre van der Veen , Rodi Zutt , Christine Klein , Connie Marras , Samuel F Berkovic , John N Caviness , Hiroshi Shibasaki , Tom J de Koning , Marina A J Tijssen

Clinical challenges and future therapeutic approaches for neuronal ceroid lipofuscinosis.

The Lancet. Neurology
Avec: Sara E Mole , Glenn Anderson , Heather A Band , Samuel F Berkovic , Jonathan D Cooper , Sophia-Martha Kleine Holthaus , Tristan R McKay , Diego L Medina , Ahad A Rahim , Angela Schulz , Alexander J Smith

Neurology
Avec: Danique R M Vlaskamp , Benjamin J Shaw , Rosemary Burgess , Davide Mei , Martino Montomoli , Han Xie , Candace T Myers , Mark F Bennett , Wenshu XiangWei , Danielle Williams , Saskia M Maas , Alice S Brooks , Grazia M S Mancini , Ingrid M B H van de Laar , Johanna M van Hagen , Tyson L Ware , Richard I Webster , Stephen Malone , Samuel F Berkovic , Renate M Kalnins , Federico Sicca , G Christoph Korenke , Conny M A van Ravenswaaij-Arts , Michael S Hildebrand , Heather C Mefford , Yuwu Jiang , Renzo Guerrini , Ingrid E Scheffer

Bi-allelic SMO variants in hypothalamic hamartoma: a recessive cause of Pallister-Hall syndrome.

European journal of human genetics : EJHG
Avec: Timothy E Green , Mareike Schimmel , Susanna Schubert , Johannes R Lemke , Mark F Bennett , Michael S Hildebrand , Samuel F Berkovic

Variants in

Brain communications
Avec: Laura C Bott , Mitra Forouhan , Maria Lieto , Ambre J Sala , Ruth Ellerington , Janel O Johnson , Alfina A Speciale , Chiara Criscuolo , Alessandro Filla , David Chitayat , Ebba Alkhunaizi , Patrick Shannon , Andrea H Nemeth , Auteur inconnu , Francesco Angelucci , Wooi Fang Lim , Pasquale Striano , Federico Zara , Ingo Helbig , Mikko Muona , Carolina Courage , Anna-Elina Lehesjoki , Samuel F Berkovic , Auteur inconnu , Kenneth H Fischbeck , Francesco Brancati , Richard I Morimoto , Matthew J A Wood , Carlo Rinaldi

Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants.

Human mutation
Avec: Duyen H Pham , Melissa R Pitman , Raman Kumar , Lachlan A Jolly , Renee Schulz , Alison E Gardner , Rebekah de Nys , Sarah E Heron , Mark A Corbett , Kavitha Kothur , Deepak Gill , Sulekha Rajagopalan , Kristy L Kolc , Benjamin J Halliday , Stephen P Robertson , Brigid M Regan , Heidi E Kirsch , Samuel F Berkovic , Ingrid E Scheffer , Stuart M Pitson , Slave Petrovski , Jozef Gecz

A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.

Epilepsia
Avec: Ciarán Campbell , Mark McCormack , Sonn Patel , Caragh Stapleton , Dheeraj Bobbili , Roland Krause , Chantal Depondt , Graeme J Sills , Bobby P Koeleman , Pasquale Striano , Federico Zara , Josemir W Sander , Holger Lerche , Wolfram S Kunz , Kari Stefansson , Hreinn Stefansson , Colin P Doherty , Erin L Heinzen , Ingrid E Scheffer , David B Goldstein , Terence O'Brien , David Cotter , Samuel F Berkovic , Auteur inconnu , Sanjay M Sisodiya , Norman Delanty , Gianpiero L Cavalleri

Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of death.

Epilepsia
Avec: Ming S Soh , Richard D Bagnall , Christopher Semsarian , Ingrid E Scheffer , Samuel F Berkovic , Christopher A Reid

Cerebrospinal fluid neurofilament light chain differentiates primary psychiatric disorders from rapidly progressive, Alzheimer's disease and frontotemporal disorders in clinical settings.

Alzheimer's & dementia : the journal of the Alzheimer's Association
Avec: Dhamidhu Eratne , Samantha M Loi , Qiao-Xin Li , Christiane Stehmann , Charles B Malpas , Alexander Santillo , Shorena Janelidze , Claire Cadwallader , Nirbaanjot Walia , Blair Ney , Victoria Lewis , Matteo Senesi , Christopher Fowler , Amelia McGlade , Shiji Varghese , Parsa Ravanfar , Wendy Kelso , Sarah Farrand , Michael Keem , Matthew Kang , Anita M Y Goh , Kunal Dhiman , Veer Gupta , Rosie Watson , Nawaf Yassi , Cath Kaylor-Hughes , Richard Kanaan , Piero Perucca , Hannah Dobson , Lucy Vivash , Rashida Ali , Terence J O'Brien , Oskar Hansson , Henrik Zetterberg , Kaj Blennow , Mark Walterfang , Colin L Masters , Samuel F Berkovic , Steven Collins , Dennis Velakoulis , Auteur inconnu

Mosaicism in tuberous sclerosis complex: Lowering the threshold for clinical reporting.

Human mutation
Avec: Zimeng Ye , Sufang Lin , Xia Zhao , Mark F Bennett , Natasha J Brown , Mathew Wallis , Xinyi Gao , Li Sun , Jiarui Wu , Ravikiran Vedururu , Tom Witkowski , Fiona Gardiner , Chloe Stutterd , Jing Duan , Saul A Mullen , George McGillivray , Simon Bodek , Giulia Valente , Matthew Reagan , Yi Yao , Lin Li , Li Chen , Amber Boys , Thiuni N Adikari , Dezhi Cao , Zhanqi Hu , Victoria Beshay , Victor W Zhang , Samuel F Berkovic , Ingrid E Scheffer , Jianxiang Liao , Michael S Hildebrand

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy.

Brain : a journal of neurology
Avec: Luca Gozzelino , Gaga Kochlamazashvili , Sara Baldassari , Albert Ian Mackintosh , Laura Licchetta , Emanuela Iovino , Yu Chi Liu , Caitlin A Bennett , Mark F Bennett , John A Damiano , Gábor Zsurka , Caterina Marconi , Tania Giangregorio , Pamela Magini , Marijn Kuijpers , Tanja Maritzen , Giuseppe Danilo Norata , Stéphanie Baulac , Laura Canafoglia , Marco Seri , Paolo Tinuper , Ingrid E Scheffer , Melanie Bahlo , Samuel F Berkovic , Michael S Hildebrand , Wolfram S Kunz , Lucio Giordano , Francesca Bisulli , Miriam Martini , Volker Haucke , Emilio Hirsch , Tommaso Pippucci

Precision medicine for genetic epilepsy on the horizon: Recent advances, present challenges, and suggestions for continued progress.

Epilepsia
Avec: Juliet K Knowles , Ingo Helbig , Cameron S Metcalf , Laura S Lubbers , Lori L Isom , Scott Demarest , Ethan M Goldberg , Alfred L George , Holger Lerche , Sarah Weckhuysen , Vicky Whittemore , Samuel F Berkovic , Daniel H Lowenstein

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

Epilepsia
Avec: Anne M McIntosh , Alex W Wynd , Samuel F Berkovic

The Muddle of Myoclonus: Many Guises, 2 Disciplines, Consensus Needed.

Neurology. Clinical practice
Avec: Sterre Van Der Veen , Marina A J Tijssen , Samuel F Berkovic

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

JAMA neurology
Avec: Sattar Khoshkhoo , Yilan Wang , Yasmine Chahine , E Zeynep Erson-Omay , Stephanie M Robert , Emre Kiziltug , Eyiyemisi C Damisah , Carol Nelson-Williams , Guangya Zhu , Wenna Kong , August Yue Huang , Edward Stronge , H Westley Phillips , Brian H Chhouk , Sara Bizzotto , Ming Hui Chen , Thiuni N Adikari , Zimeng Ye , Tom Witkowski , Dulcie Lai , Nadine Lee , Julie Lokan , Ingrid E Scheffer , Samuel F Berkovic , Shozeb Haider , Michael S Hildebrand , Edward Yang , Murat Gunel , Richard P Lifton , R Mark Richardson , Ingmar Blümcke , Sanda Alexandrescu , Anita Huttner , Erin L Heinzen , Jidong Zhu , Annapurna Poduri , Nihal DeLanerolle , Dennis D Spencer , Eunjung Alice Lee , Christopher A Walsh , Kristopher T Kahle

Exploring individual fixel-based white matter abnormalities in epilepsy.

Brain communications
Avec: Remika Mito , Mangor Pedersen , Heath Pardoe , Donna Parker , Robert E Smith , Jillian Cameron , Ingrid E Scheffer , Samuel F Berkovic , David N Vaughan , Graeme D Jackson

Diagnostic Utility of Genome-wide DNA Methylation Analysis in Genetically Unsolved Developmental and Epileptic Encephalopathies and Refinement of a CHD2 Episignature.

medRxiv : the preprint server for health sciences
Avec: Christy W LaFlamme , Cassandra Rastin , Soham Sengupta , Helen E Pennington , Sophie J Russ-Hall , Amy L Schneider , Emily S Bonkowski , Edith P Almanza Fuerte , Miranda Galey , Joy Goffena , Sophia B Gibson , Talia J Allan , Denis M Nyaga , Nico Lieffering , Malavika Hebbar , Emily V Walker , Daniel Darnell , Scott R Olsen , Pandurang Kolekar , Nahdir Djekidel , Wojciech Rosikiewicz , Haley McConkey , Jennifer Kerkhof , Michael A Levy , Raissa Relator , Dorit Lev , Tally Lerman-Sagie , Kristen L Park , Marielle Alders , Gerarda Cappuccio , Nicolas Chatron , Leigh Demain , David Genevieve , Gaetan Lesca , Tony Roscioli , Damien Sanlaville , Matthew L Tedder , Monika Weisz Hubshman , Shamika Ketkar , Hongzheng Dai , Kim Carlyle Worley , Jill A Rosenfeld , Hsiao-Tuan Chao , Auteur inconnu , Geoffrey Neale , Gemma L Carvill , Auteur inconnu , Zhaoming Wang , Samuel F Berkovic , Lynette G Sadleir , Danny E Miller , Ingrid E Scheffer , Bekim Sadikovic , Heather C Mefford

Genes4Epilepsy: An epilepsy gene resource.

Epilepsia
Avec: Karen L Oliver , Ingrid E Scheffer , Mark F Bennett , Bronwyn E Grinton , Melanie Bahlo , Samuel F Berkovic

Mortality in patients with psychogenic nonepileptic seizures.

Neurology
Avec: Russell Nightscales , Lara McCartney , Clarissa Auvrez , Gerard Tao , Sarah Barnard , Charles B Malpas , Piero Perucca , Anne McIntosh , Zhibin Chen , Shobi Sivathamboo , Sophia Ignatiadis , Simon Jones , Sophia Adams , Mark J Cook , Patrick Kwan , Dennis Velakoulis , Wendyl D'Souza , Samuel F Berkovic , Terence J O'Brien

The Genetics of Epilepsy.

Annual review of genomics and human genetics
Avec: Piero Perucca , Melanie Bahlo , Samuel F Berkovic

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

European journal of human genetics : EJHG
Avec: 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

Human

Neurology. Genetics
Avec: Mangor Pedersen , Magdalena Kowalczyk , Amir Omidvarnia , Piero Perucca , Samuel Gooley , Steven Petrou , Ingrid E Scheffer , Samuel F Berkovic , Graeme D Jackson

EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.

European journal of medical genetics
Avec: Marie Shaw , Anna Winczewska-Wiktor , Magdalena Badura-Stronka , Sunita Koirala , Alison Gardner , Łukasz Kuszel , Piotr Kowal , Barbara Steinborn , Monika Starczewska , Sarah Garry , Ingrid E Scheffer , Samuel F Berkovic , Jozef Gecz

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy.

Epilepsia
Avec: Herbert Schulz , Ann-Kathrin Ruppert , Federico Zara , Francesca Madia , Michele Iacomino , Maria S Vari , Ganna Balagura , Carlo Minetti , Pasquale Striano , Amedeo Bianchi , Carla Marini , Renzo Guerrini , Yvonne G Weber , Felicitas Becker , Holger Lerche , Claudia Kapser , Christoph J Schankin , Wolfram S Kunz , Rikke S Møller , Karen L Oliver , Susannah T Bellows , Saul A Mullen , Samuel F Berkovic , Ingrid E Scheffer , Hande Caglayan , Ugur Ozbek , Per Hoffmann , Sara Schramm , Despina Tsortouktzidis , Albert J Becker , Thomas Sander

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain.

Brain communications
Avec: Zimeng Ye , Zac Chatterton , Jahnvi Pflueger , John A Damiano , Lara McQuillan , Anthony Simon Harvey , Stephen Malone , Hongdo Do , Wirginia Maixner , Amy Schneider , Bernadette Nolan , Martin Wood , Wei Shern Lee , Greta Gillies , Kate Pope , Michael Wilson , Paul J Lockhart , Alexander Dobrovic , Ingrid E Scheffer , Melanie Bahlo , Richard J Leventer , Ryan Lister , Samuel F Berkovic , Michael S Hildebrand

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

Frontiers in neurology
Avec: Lauren E Bleakley , Ming S Soh , Richard D Bagnall , Lynette G Sadleir , Samuel Gooley , Christopher Semsarian , Ingrid E Scheffer , Samuel F Berkovic , Christopher A Reid

Progressive myoclonus epilepsies-Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes.

American journal of human genetics
Avec: Carolina Courage , Karen L Oliver , Eon Joo Park , Jillian M Cameron , Kariona A Grabińska , Mikko Muona , Laura Canafoglia , Antonio Gambardella , Edith Said , Zaid Afawi , Betul Baykan , Christian Brandt , Carlo di Bonaventura , Hui Bein Chew , Chiara Criscuolo , Leanne M Dibbens , Barbara Castellotti , Patrizia Riguzzi , Angelo Labate , Alessandro Filla , Anna T Giallonardo , Geza Berecki , Christopher B Jackson , Tarja Joensuu , John A Damiano , Sara Kivity , Amos Korczyn , Aarno Palotie , Pasquale Striano , Davide Uccellini , Loretta Giuliano , Eva Andermann , Ingrid E Scheffer , Roberto Michelucci , Melanie Bahlo , Silvana Franceschetti , William C Sessa , Samuel F Berkovic , Anna-Elina Lehesjoki

Association of

Neurology
Avec: Sarah E Heron , Brigid M Regan , Rebekah V Harris , Alison E Gardner , Matthew J Coleman , Mark F Bennett , Bronwyn E Grinton , Katherine L Helbig , Michael R Sperling , Sheryl Haut , Eric B Geller , Peter Widdess-Walsh , James T Pelekanos , Melanie Bahlo , Slavé Petrovski , Erin L Heinzen , Michael S Hildebrand , Mark A Corbett , Ingrid E Scheffer , Jozef Gécz , Samuel F Berkovic

ILAE Genetic Literacy Series: familial focal epilepsy syndromes.

Epileptic disorders : international epilepsy journal with videotape
Avec: Samuel Gooley , Douglas E Crompton , Samuel F Berkovic

Genetic factors and shared environment contribute equally to objective singing ability.

iScience
Avec: Daniel Yeom , Yi Ting Tan , Nick Haslam , Miriam A Mosing , Valerie M Z Yap , Trisnasari Fraser , Michael S Hildebrand , Sam F Berkovic , Gary E McPherson , Isabelle Peretz , Sarah J Wilson

Diagnostic delay in focal epilepsy: Association with brain pathology and age.

Seizure
Avec: Mengjiazhi Yang , K Meng Tan , Patrick Carney , Patrick Kwan , Terence J O'Brien , Samuel F Berkovic , Piero Perucca , Anne M McIntosh

Cerebrospinal fluid neurofilament light chain differentiates behavioural variant frontotemporal dementia progressors from non-progressors.

Journal of the neurological sciences
Avec: Dhamidhu Eratne , Michael Keem , Courtney Lewis , Matthew Kang , Mark Walterfang , Sarah Farrand , Samantha Loi , Wendy Kelso , Claire Cadwallader , Samuel F Berkovic , Qiao-Xin Li , Colin L Masters , Steven Collins , Alexander Santillo , Dennis Velakoulis , Auteur inconnu

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Genetics in medicine : official journal of the American College of Medical Genetics
Avec: Yoeri Sleyp , Irene Valenzuela , Andrea Accogli , Katleen Ballon , Bruria Ben-Zeev , Samuel F Berkovic , Martin Broly , Patrick Callaerts , Raymond C Caylor , Perrine Charles , Nicolas Chatron , Lior Cohen , Antonietta Coppola , Dawn Cordeiro , Claudia Cuccurullo , Ivon Cuscó , Janette diMonda , Ramon Duran-Romaña , Nina Ekhilevitch , Paula Fernández-Alvarez , Christopher T Gordon , Bertrand Isidor , Boris Keren , Gaetan Lesca , Jarymke Maljaars , Saadet Mercimek-Andrews , Michelle M Morrow , Alison M Muir , Auteur inconnu , Frederic Rousseau , Vincenzo Salpietro , Ingrid E Scheffer , Rhonda E Schnur , Joost Schymkowitz , Erika Souche , Jean Steyaert , Elliot S Stolerman , Jaime Vengoechea , Dorothée Ville , Camerun Washington , Karin Weiss , Rinat Zaid , Lynette G Sadleir , Heather C Mefford , Hilde Peeters

Somatic Mosaic Mutation Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.

Neurology
Avec: Zimeng Ye , Mark F Bennett , Andrew Neal , Joshua A Laing , Martin K Hunn , Thanomporn Wittayacharoenpong , Marian Todaro , Sheila K Patel , Melanie Bahlo , Patrick Kwan , Terence J O'Brien , Ingrid E Scheffer , Samuel F Berkovic , Piero Perucca , Michael S Hildebrand

The diverse pleiotropic effects of spliceosomal protein PUF60: A case series of Verheij syndrome.

American journal of medical genetics. Part A
Avec: Andrew Paul Fennell , Anne Elizabeth Baxter , Samuel Frank Berkovic , Carolyn Jane Ellaway , Caitlin Forwood , Michael Stephen Hildebrand , Smitha Kumble , Colina McKeown , David Mowat , Gemma Poke , Sulekha Rajagopalan , Brigid M Regan , Ingrid Eileen Scheffer , Zornitza Stark , Chloe Alice Stutterd , Tiong Yang Tan , Ella Jane Wilkins , Alison Yeung , Matthew Frank Hunter

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

medRxiv : the preprint server for health sciences
Avec: Auteur inconnu , Siwei Chen , Benjamin M Neale , Samuel F Berkovic

History of familial adult myoclonus epilepsy/benign adult familial myoclonic epilepsy around the world.

Epilepsia
Avec: Samuel F Berkovic , Pasquale Striano , Shoji Tsuji

Aicardi Syndrome Is a Genetically Heterogeneous Disorder.

Genes
Avec: Thuong T Ha , Rosemary Burgess , Morgan Newman , Ching Moey , Simone A Mandelstam , Alison E Gardner , Atma M Ivancevic , Duyen Pham , Raman Kumar , Nicholas Smith , Chirag Patel , Stephen Malone , Monique M Ryan , Sophie Calvert , Clare L van Eyk , Michael Lardelli , Samuel F Berkovic , Richard J Leventer , Linda J Richards , Ingrid E Scheffer , Jozef Gecz , Mark A Corbett

Plasma and CSF neurofilament light chain distinguish neurodegenerative from primary psychiatric conditions in a clinical setting.

Alzheimer's & dementia : the journal of the Alzheimer's Association
Avec: Dhamidhu Eratne , Matthew J Y Kang , Courtney Lewis , Christa Dang , Charles B Malpas , Michael Keem , Jasleen Grewal , Vladimir Marinov , Amy Coe , Cath Kaylor-Hughes , Thomas Borchard , Chhoa Keng-Hong , Alexandra Waxmann , Burcu Saglam , Tomas Kalincik , Richard Kanaan , Wendy Kelso , Andrew Evans , Sarah Farrand , Samantha Loi , Mark Walterfang , Christiane Stehmann , Qiao-Xin Li , Steven Collins , Colin L Masters , Alexander F Santillo , Henrik Zetterberg , Kaj Blennow , Samuel F Berkovic , Dennis Velakoulis , Auteur inconnu

Loss-of-function variants in K

Annals of clinical and translational neurology
Avec: Ming S Soh , Richard D Bagnall , Mark F Bennett , Lauren E Bleakley , Erlina S Mohamed Syazwan , A Marie Phillips , Mathew D F Chiam , Chaseley E McKenzie , Michael Hildebrand , Douglas Crompton , Melanie Bahlo , Christopher Semsarian , Ingrid E Scheffer , Samuel F Berkovic , Christopher A Reid

Cation leak underlies neuronal excitability in an HCN1 developmental and epileptic encephalopathy.

Brain : a journal of neurology
Avec: Lauren E Bleakley , Chaseley E McKenzie , Ming S Soh , Ian C Forster , Paulo Pinares-Garcia , Alicia Sedo , Anirudh Kathirvel , Leonid Churilov , Nikola Jancovski , Snezana Maljevic , Samuel F Berkovic , Ingrid E Scheffer , Steven Petrou , Bina Santoro , Christopher A Reid

The severe epilepsy syndromes of infancy: A population-based study.

Epilepsia
Avec: Katherine B Howell , Jeremy L Freeman , Mark T Mackay , Michael C Fahey , John Archer , Samuel F Berkovic , Eunice Chan , Gabriel Dabscheck , Stefanie Eggers , Michael Hayman , James Holberton , Rodney W Hunt , Susan E Jacobs , Andrew J Kornberg , Richard J Leventer , Simone Mandelstam , Jacinta M McMahon , Heather C Mefford , Julie Panetta , Jessica Riseley , Victoria Rodriguez-Casero , Monique M Ryan , Amy L Schneider , Lindsay J Smith , Zornitza Stark , Flora Wong , Eppie M Yiu , Ingrid E Scheffer , A Simon Harvey

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

Annals of neurology
Avec: 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

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

Annals of neurology
Avec: Colin A Ellis , Samuel F Berkovic , Michael P Epstein , Ruth Ottman , Auteur inconnu

Epilepsy genetics: clinical impacts and biological insights.

The Lancet. Neurology
Avec: Colin A Ellis , Slavé Petrovski , Samuel F Berkovic

Enlarged hippocampal fissure in psychosis of epilepsy.

Epilepsy & behavior : E&B
Avec: James Allebone , Richard A Kanaan , Jerome J Maller , Terrence O'Brien , Saul Mullen , Mark Cook , Sophie Adams , Simon Vogrin , David Vaughan , Alan Connelly , Patrick Kwan , Samuel F Berkovic , Wendyl D'Souza , Graeme Jackson , Dennis Velakoulis , Sarah J Wilson

Novel Missense

International journal of molecular sciences
Avec: Géza Berecki , Katherine L Helbig , Tyson L Ware , Bronwyn Grinton , Cara M Skraban , Eric D Marsh , Samuel F Berkovic , Steven Petrou

Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly.

Neuron
Avec: 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 , Auteur inconnu , Ching-Ching Ng , Chung-Kin Chan , Kheng-Seang Lim , Richard J Leventer , Paul J Lockhart , Kate Riney , John A Damiano , Michael S Hildebrand , Ghayda M Mirzaa , William B Dobyns , Samuel F Berkovic , Ingrid E Scheffer , Jin-Wu Tsai , Heather C Mefford

State transitions through inhibitory interneurons in a cortical network model.

PLoS computational biology
Avec: Alexander Bryson , Samuel F Berkovic , Steven Petrou , David B Grayden

Evidence for a Dual-Pathway, 2-Hit Genetic Model for Focal Cortical Dysplasia and Epilepsy.

Neurology. Genetics
Avec: Mark F Bennett , Michael S Hildebrand , Sayaka Kayumi , Mark A Corbett , Sachin Gupta , Zimeng Ye , Michael Krivanek , Rosemary Burgess , Olivia J Henry , John A Damiano , Amber Boys , Jozef Gécz , Melanie Bahlo , Ingrid E Scheffer , Samuel F Berkovic

Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.

Human molecular genetics
Avec: Timothy E Green , Joshua E Motelow , Mark F Bennett , Zimeng Ye , Caitlin A Bennett , Nicole G Griffin , John A Damiano , Richard J Leventer , Jeremy L Freeman , A Simon Harvey , Paul J Lockhart , Lynette G Sadleir , Amber Boys , Ingrid E Scheffer , Heather Major , Benjamin W Darbro , Melanie Bahlo , David B Goldstein , John F Kerrigan , Erin L Heinzen , Samuel F Berkovic , Michael S Hildebrand

Plasma neurofilament light chain protein is not increased in treatment-resistant schizophrenia and first-degree relatives.

The Australian and New Zealand journal of psychiatry
Avec: Dhamidhu Eratne , Shorena Janelidze , Charles B Malpas , Samantha Loi , Mark Walterfang , Antonia Merritt , Ibrahima Diouf , Kaj Blennow , Henrik Zetterberg , Brandon Cilia , Cassandra Wannan , Chad Bousman , Ian Everall , Andrew Zalesky , Mahesh Jayaram , Naveen Thomas , Samuel F Berkovic , Oskar Hansson , Dennis Velakoulis , Christos Pantelis , Alexander Santillo , Auteur inconnu

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

JAMA network open
Avec: Terence J O'Brien , Samuel F Berkovic , Jacqueline A French , John A Messenheimer , Terri B Sebree , Marcel O Bonn-Miller , Donna L Gutterman , Auteur inconnu

Interictal EEG and ECG for SUDEP Risk Assessment: A Retrospective Multicenter Cohort Study.

Frontiers in neurology
Avec: Zhe Sage Chen , Aaron Hsieh , Guanghao Sun , Gregory K Bergey , Samuel F Berkovic , Piero Perucca , Wendyl D'Souza , Christopher J Elder , Pue Farooque , Emily L Johnson , Sarah Barnard , Russell Nightscales , Patrick Kwan , Brian Moseley , Terence J O'Brien , Shobi Sivathamboo , Juliana Laze , Daniel Friedman , Orrin Devinsky , Auteur inconnu

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants.

Communications biology
Avec: Géza Berecki , Katherine B Howell , Jacqueline Heighway , Nelson Olivier , Jill Rodda , Isabella Overmars , Danique R M Vlaskamp , Tyson L Ware , Simone Ardern-Holmes , Gaetan Lesca , Michael Alber , Pierangelo Veggiotti , Ingrid E Scheffer , Samuel F Berkovic , Markus Wolff , Steven Petrou

Familial aggregation of seizure outcomes in four familial epilepsy cohorts.

Epilepsia
Avec: Colin A Ellis , Danni Tu , Karen L Oliver , Heather C Mefford , W Allen Hauser , Jeffrey Buchhalter , Michael P Epstein , Quy Cao , Auteur inconnu , Auteur inconnu , Samuel F Berkovic , Ruth Ottman

Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless.

Orphanet journal of rare diseases
Avec: Mathew Wallis , Simon D Bodek , Jacob Munro , Haloom Rafehi , Mark F Bennett , Zimeng Ye , Amy Schneider , Fiona Gardiner , Giulia Valente , Emma Murdoch , Eloise Uebergang , Jacquie Hunter , Chloe Stutterd , Aamira Huq , Lucinda Salmon , Ingrid Scheffer , Dhamidhu Eratne , Stephen Meyn , Chun Y Fong , Tom John , Saul Mullen , Susan M White , Natasha J Brown , George McGillivray , Jesse Chen , Chris Richmond , Andrew Hughes , Emma Krzesinski , Andrew Fennell , Brian Chambers , Renee Santoreneos , Anna Le Fevre , Michael S Hildebrand , Melanie Bahlo , John Christodoulou , Martin Delatycki , Samuel F Berkovic

Loss-of-function variants in the KCNQ5 gene are implicated in genetic generalized epilepsies.

EBioMedicine
Avec: Johanna Krüger , Julian Schubert , Josua Kegele , Audrey Labalme , Miaomiao Mao , Jacqueline Heighway , Guiscard Seebohm , Pu Yan , Mahmoud Koko , Kezban Aslan-Kara , Hande Caglayan , Bernhard J Steinhoff , Yvonne G Weber , Pascale Keo-Kosal , Samuel F Berkovic , Michael S Hildebrand , Steven Petrou , Roland Krause , Patrick May , Gaetan Lesca , Snezana Maljevic , Holger Lerche

Neuropsychological function in psychosis of epilepsy.

Epilepsy research
Avec: James Allebone , Richard A Kanaan , Genevieve Rayner , Jerome Maller , Terence J O'Brien , Saul A Mullen , Mark Cook , Sophia J Adams , Simon Vogrin , David N Vaughan , Patrick Kwan , Samuel F Berkovic , Wendyl J D'Souza , Graeme Jackson , Dennis Velakoulis , Sarah J Wilson

Applying the ILAE diagnostic criteria for Lennox-Gastaut syndrome in the real-world setting: A multicentre retrospective cohort study.

Epilepsia open
Avec: Russell Nightscales , Zhibin Chen , Sarah Barnard , Clarissa Auvrez , Gerard Tao , Shobi Sivathamboo , Caitlin Bennett , Maria Rychkova , Wendyl D'Souza , Samuel F Berkovic , John-Paul Nicolo , Terence J O'Brien , Piero Perucca , Ingrid E Scheffer , Patrick Kwan

GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons.

Proceedings of the National Academy of Sciences of the United States of America
Avec: Alexander Bryson , Robert John Hatch , Bas-Jan Zandt , Christian Rossert , Samuel F Berkovic , Christopher A Reid , David B Grayden , Sean L Hill , Steven Petrou

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

Epilepsia open
Avec: 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 , Samuel F Berkovic

Somatic mutation: The hidden genetics of brain malformations and focal epilepsies.

Epilepsy research
Avec: Zimeng Ye , Lara McQuillan , Annapurna Poduri , Timothy E Green , Naomichi Matsumoto , Heather C Mefford , Ingrid E Scheffer , Samuel F Berkovic , Michael S Hildebrand

Deciphering the role of epigenetics in self-limited epilepsy with centrotemporal spikes.

Epilepsy research
Avec: Namitha Mohandas , Yuk Jing Loke , Lisa Mackenzie , Carmen Bennett , Samuel F Berkovic , Jeffrey M Craig , Lata Vadlamudi

Association Between Psychiatric Comorbidities and Mortality in Epilepsy.

Neurology. Clinical practice
Avec: Gerard Tao , Clarissa Auvrez , Russell Nightscales , Sarah Barnard , Lara McCartney , Charles B Malpas , Piero Perucca , Zhibin Chen , Sophia Adams , Anne McIntosh , Sophia Ignatiadis , Patrick O'Brien , Mark J Cook , Patrick Kwan , Samuel F Berkovic , Wendyl D'Souza , Dennis Velakoulis , Terence J O'Brien

Genome-wide association study of febrile seizures implicates fever response and neuronal excitability genes.

Brain : a journal of neurology
Avec: Line Skotte , João Fadista , Jonas Bybjerg-Grauholm , Vivek Appadurai , Michael S Hildebrand , Thomas F Hansen , Karina Banasik , Jakob Grove , Clara Albiñana , Frank Geller , Carmen F Bjurström , Bjarni J Vilhjálmsson , Matthew Coleman , John A Damiano , Rosemary Burgess , Ingrid E Scheffer , Ole Birger Vesterager Pedersen , Christian Erikstrup , David Westergaard , Kaspar René Nielsen , Erik Sørensen , Mie Topholm Bruun , Xueping Liu , Henrik Hjalgrim , Tune H Pers , Preben Bo Mortensen , Ole Mors , Merete Nordentoft , Julie W Dreier , Anders D Børglum , Jakob Christensen , David M Hougaard , Alfonso Buil , Anders Hviid , Mads Melbye , Henrik Ullum , Samuel F Berkovic , Thomas Werge , Bjarke Feenstra

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

Epilepsy research
Avec: 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

Epilepsy risk in offspring of affected parents; a cohort study of the "maternal effect" in epilepsy.

Annals of clinical and translational neurology
Avec: Julie W Dreier , Colin A Ellis , Samuel F Berkovic , Chris Cotsapas , Ruth Ottman , Jakob Christensen

Réseau de co-auteurs

Samuel F Berkovic 68 collaborations
Ingrid E Scheffer 35 collaborations
Michael S Hildebrand 20 collaborations
None None 18 collaborations
Mark F Bennett 15 collaborations
Melanie Bahlo 15 collaborations
John A Damiano 10 collaborations
Piero Perucca 9 collaborations
Terence J O'Brien 9 collaborations
Dennis Velakoulis 8 collaborations
Zimeng Ye 8 collaborations
Patrick Kwan 8 collaborations
Heather C Mefford 7 collaborations
Steven Petrou 7 collaborations
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