PRECISION MEDICINE IN THE DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES

Retinal Dysfunction in a Mouse Model of HCN1 Genetic Epilepsy.

Da Zhao, Paulo Pinares-Garcia, Chaseley E McKenzie, Lauren E Bleakley, Ian C Forster, Vickie HY Wong, Christine TO Nguyen, Ingrid E Scheffer, Christopher A Reid, Bang V Bui

2023-02-22

Pathogenic variants in HCN1 are associated with a range of epilepsy syndromes including a developmental and epileptic encephalopat..

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

2022-11-03

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

Does long-term phenytoin have a place in Dravet syndrome?

George A Zographos, Sophie J Russ-Hall, Ingrid E Scheffer

2022-10-31

Anti-seizure medications that block sodium channels are generally considered contraindicated in Dravet syndrome. There is, however..

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S Hildebrand, Victoria E Jackson, Ruth Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana Lauretta, Lottie Morison, Matthew J Coleman, Richard Webster, David Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, Lilian Downie, Emma K Baker, Bronwyn Parry-Fielder, Kirrie Ballard, Eva Harrold

2022-09-18

Childhood apraxia of speech (CAS), the prototypic severe childhood speech disorder, is characterized by motor programming and plan..

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

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

2022-09-06

Tuberous sclerosis complex (TSC) is a multi-system genetic disorder. Most patients have germline mutations in TSC1 or TSC2 but, 10..

Common risk variants for epilepsy are enriched in families previously targeted for rare monogenic variant discovery.

Karen L Oliver, Colin A Ellis, Ingrid E Scheffer, Shiva Ganesan, Costin Leu, Lynette G Sadleir, Erin L Heinzen, Heather C Mefford, Andrew J Bass, Sarah W Curtis, Rebekah V Harris, null Epi4K Consortium, David C Whiteman, Ingo Helbig, Ruth Ottman, Michael P Epstein, Melanie Bahlo, Samuel F Berkovic

2022-07-01

BACKGROUND: The epilepsies are highly heritable conditions that commonly follow complex inheritance. While monogenic causes have b..

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

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

2022-04-22

Sudden unexpected death in epilepsy (SUDEP) is a leading cause of premature death in epilepsy. The underlying pathological mechani..

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

Chaseley E Mckenzie, Chen-Jui Ho, Ian C Forster, Ming S Soh, A Marie Phillips, Ying-Chao Chang, Ingrid E Scheffer, Christopher A Reid, Meng-Han Tsai

2022-03-10

Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we..

Solving the Molecular Basis of the Developmental and Epileptic Encephalopathies: Are We there Yet?

Ingrid E Scheffer

2021-09-27

Loss-of-function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

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

2021-05-18

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls ..