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Neurology|April 17, 2013
Autosomal dominant vasovagal syncope: clinical features and linkage to chromosome 15q26Karl Martin Klein, Catherine J Bromhead, Katherine R Smith, et al.Journal of Medical Genetics|January 30, 2024
Expanding the phenotype of Kleefstra syndrome: speech, language and cognition in 103 individualsLottie D Morison, Milou G P Kennis, Dmitrijs Rots, et al.Annals of Neurology|December 26, 2015
Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsyRichard D Bagnall, Douglas E Crompton, Slavé Petrovski, et al.Developmental Medicine and Child Neurology|November 21, 2012
The clinical utility of an SCN1A genetic diagnosis in infantile-onset epilepsyAndreas Brunklaus, Liam Dorris, Rachael Ellis, et al.Epilepsia|November 25, 2017
Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45Gemma L Carvill, Aijie Liu, Simone Mandelstam, et al.Annals of Neurology|March 4, 2014
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsIngrid E Scheffer, Sarah E Heron, Brigid M Regan, et al.Annals of Neurology|March 30, 2004
Benign familial neonatal-infantile seizures: characterization of a new sodium channelopathySamuel F Berkovic, Sarah E Heron, Lucio Giordano, et al.Neurology|August 24, 2012
Peritrigonal and temporo-occipital heterotopia with corpus callosum and cerebellar dysgenesisTiziana Pisano, A James Barkovich, Richard J Leventer, et al.American Journal of Human Genetics|October 26, 2022
A founder event causing a dominant childhood epilepsy survives 800 years through weak selective pressureBronwyn E Grinton, Erandee Robertson, Liam G Fearnley, et al.Brain : a Journal of Neurology|September 14, 2010
Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathyManju A Kurian, Esther Meyer, Grace Vassallo, et al.Pageof 67