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Neurology|April 1, 2016
A targeted resequencing gene panel for focal epilepsyMichael S Hildebrand, Candace T Myers, Gemma L Carvill, et al.
European Journal of Human Genetics : EJHG|March 24, 2020
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian familiesMark F Bennett, Karen L Oliver, Brigid M Regan, et al.
Epilepsia|January 6, 2011
A duplication in 1q21.3 in a family with early onset and childhood absence epilepsyHiltrud Muhle, Ines Steinich, Sarah von Spiczak, et al.
Cell Reports|December 6, 2018
A Primate-Specific Isoform of PLEKHG6 Regulates Neurogenesis and Neuronal MigrationAdam C O'Neill, Christina Kyrousi, Johannes Klaus, et al.
Neurology. Genetics|December 28, 2018
Development of a rapid functional assay that predicts GLUT1 disease severitySasha M Zaman, Saul A Mullen, Slavé Petrovski, et al.
Annals of Neurology|March 5, 2014
KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidineCarol J Milligan, Melody Li, Elena V Gazina, et al.
AJNR. American Journal of Neuroradiology|October 10, 2002
Ectopic posterior pituitary lobe and periventricular heterotopia: cerebral malformations with the same underlying mechanism?L Anne Mitchell, Paul Q Thomas, Margaret R Zacharin, et al.
Epilepsy Research|April 8, 2015
"It's good to know": experiences of gene identification and result disclosure in familial epilepsiesDanya F Vears, Karen L Dunn, Samantha A Wake, et al.
Nature Reviews. Disease Primers|September 5, 2024
Developmental and epileptic encephalopathiesIngrid E Scheffer, Sameer Zuberi, Heather C Mefford, et al.
Neurology|January 2, 2024
Idiopathic Generalized Epilepsy: Misunderstandings, Challenges, and OpportunitiesOrrin Devinsky, Christopher Elder, Shobi Sivathamboo, et al.
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