Bronwyn Grinton

Genes4Epilepsy: An epilepsy gene resource.

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

Journal article  |  2023  |  Epilepsia

OBJECTIVE: "How many epilepsy genes are there?" is a frequently asked question. We sought to (1) provide a curated list of genes t..

A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressure

Bronwyn E Grinton, Erandee Robertson, Liam G Fearnley, Ingrid E Scheffer, Anthony G Marson, Terence J O'Brien, W Owen Pickrell, Mark Rees, Sanjay M Sisodiya, David J Balding, Mark F Bennett, Melanie Bahlo, Samuel F Berkovic, Karen L Oliver

Journal article  |  2022  |  AMERICAN JOURNAL OF HUMAN GENETICS

Genetic epilepsy with febrile seizures plus (GEFS+) is an autosomal dominant familial epilepsy syndrome characterized by distincti..

Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus

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, Slave Petrovski, Erin L Heinzen, Michael S Hildebrand, Mark A Corbett, Ingrid E Scheffer, Jozef Gecz, et al.

Journal article  |  2021  |  NEUROLOGY

OBJECTIVE: To identify the causative gene in a large unsolved family with genetic epilepsy with febrile seizures plus (GEFS+), we ..

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

Journal article  |  2021  |  EPILEPSY RESEARCH

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

Novel MissenseCACNA1GMutations Associated with Infantile-Onset Developmental and Epileptic Encephalopathy

Geza Berecki, Katherine L Helbig, Tyson L Ware, Bronwyn Grinton, Cara M Skraban, Eric D Marsh, Samuel F Berkovic, Steven Petrou

Journal article  |  2020  |  INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

The CACNA1G gene encodes the low-voltage-activated Cav3.1 channel, which is expressed in various areas of the CNS, including the c..

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, et al.

Journal article  |  2019  |  EPILEPSIA OPEN

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

Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy

Cheryl Shoubridge, Matilda Jackson, Bronwyn Grinton, Samuel F Berkovic, Ingrid E Scheffer, Shannon Huskins, Alison Thomas, Tyson Ware

Journal article  |  2019  |  AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Pathogenic variants in the X-chromosome Aristaless-related homeobox (ARX) gene contribute to intellectual disability, epilepsy, an..

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

Samuel F Berkovic, Tracy Dixon-Salazar, David B Goldstein, Erin L Heinzen, Brandon L Laughlin, Daniel H Lowenstein, Laura Lubbers, Julie Milder, Randall Stewart, Vicky Whittemore, Kaitlin Angione, Carl W Bazil, Louise Bier, Judith Bluvstein, Elise Brimble, Colleen Campbell, Chelsea Chambers, Hyunmi Choi, Maria Roberta Cilio, Michael Ciliberto, et al.

Journal article  |  2018  |  GENETICS IN MEDICINE

PurposeAs part of the Epilepsy Genetics Initiative, we re-evaluated clinically generated exome sequence data from 54 epilepsy pati..

Randomized Controlled Trial of Melatonin for Sleep Disturbance in Dravet Syndrome: The DREAMS Study

Kenneth A Myers, Margot J Davey, Michael Ching, Cohn Ellis, Bronwyn E Grinton, Annie Roten, Paul A Lightfoot, Ingrid E Scheffer

Journal article  |  2018  |  JOURNAL OF CLINICAL SLEEP MEDICINE

Dravet syndrome is a severe developmental and epileptic encephalopathy, in which 75% of patients have sleep disturbance. Melatonin..

Genetic epilepsy with febrile seizures plus Refining the spectrum

Yue-Hua Zhang, Rosemary Burgess, Jodie P Malone, Georgie C Glubb, Katherine L Helbig, Lata Vadlamudi, Sara Kivity, Zaid Afawi, Andrew Bleasel, Padraic Grattan-Smith, Bronwyn E Grinton, Susannah T Bellows, Danya F Vears, John A Damiano, Hadassa Goldberg-Stern, Amos D Korczyn, Leanne M Dibbens, Elizabeth K Ruzzo, Michael S Hildebrand, Samuel F Berkovic, et al.

Journal article  |  2017  |  NEUROLOGY

OBJECTIVE: Following our original description of generalized epilepsy with febrile seizures plus (GEFS+) in 1997, we analyze the p..