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Epilepsia|April 29, 2005
Is variation in the GABA(B) receptor 1 gene associated with temporal lobe epilepsy?Nigel C K Tan, Sarah E Heron, Ingrid E Scheffer, et al.
Plos One|July 12, 2014
Harnessing gene expression networks to prioritize candidate epileptic encephalopathy genesKaren L Oliver, Vesna Lukic, Natalie P Thorne, et al.
Human Mutation|May 10, 2005
SCN1A mutations and epilepsyJohn C Mulley, Ingrid E Scheffer, Steven Petrou, et al.
Epilepsia|April 9, 2022
Rare sudden unexpected death in epilepsy SCN5A variants cause changes in channel function implicating cardiac arrhythmia as a cause of deathMing S Soh, Richard D Bagnall, Christopher Semsarian, et al.
The Journal of Clinical Endocrinology and Metabolism|November 29, 2007
Association of a nicotinic receptor mutation with reduced height and blunted physostigmine-stimulated growth hormone releaseMarco Fedi, Leon A Bach, Samuel F Berkovic, et al.
Epilepsia|February 22, 2023
Genes4Epilepsy: An epilepsy gene resourceKaren L Oliver, Ingrid E Scheffer, Mark F Bennett, et al.
Brain : a Journal of Neurology|December 13, 2002
Childhood absence epilepsy and febrile seizures: a family with a GABA(A) receptor mutationCarla Marini, Louise A Harkin, Robyn H Wallace, et al.
Ebiomedicine|October 30, 2024
Investigating the effect of polygenic background on epilepsy phenotype in 'monogenic' familiesKaren L Oliver, Ingrid E Scheffer, Colin A Ellis, et al.
Expert Review of Neurotherapeutics|September 14, 2021
Cutting edge approaches to detecting brain mosaicism associated with common focal epilepsies: implications for diagnosis and potential therapiesZimeng Ye, Mark F Bennett, Melanie Bahlo, et al.
Twin Research : the Official Journal of the International Society for Twin Studies|May 2, 2003
A twin study of genetic influences on epilepsy outcomeMichael R Johnson, Roger L Milne, Yvonne Torn-Broers, et al.
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