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Epilepsia|February 5, 2026
Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsyMarsha Tan, Beatrice Southby Goad, Meagan Allen, et al.
Epilepsia|October 24, 2006
Exploration of the genetic architecture of idiopathic generalized epilepsiesAnne Hempelmann, Kirsten P Taylor, Armin Heils, et al.
American Journal of Human Genetics|April 14, 2015
Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic SeizuresGemma L Carvill, Jacinta M McMahon, Amy Schneider, et al.
Epilepsia Open|August 24, 2019
Epidemiology and etiology of infantile developmental and epileptic encephalopathies in TasmaniaTyson L Ware, Shannon R Huskins, Bronwyn E Grinton, et al.
Epilepsia|March 14, 2025
Variants in ATP6V0C are associated with Dravet-like developmental and epileptic encephalopathyMarlene Rong, Paula T Marques, Quratulain Zulfiqar Ali, et al.
Brain Communications|March 19, 2021
Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brainZimeng Ye, Zac Chatterton, Jahnvi Pflueger, et al.
Brain : a Journal of Neurology|July 2, 2011
Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathologyClaudia B Catarino, Joan Y W Liu, Ioannis Liagkouras, et al.
Epilepsia|May 19, 2015
Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcomeBronwyn E Grinton, Sarah E Heron, James T Pelekanos, et al.
Brain : a Journal of Neurology|March 10, 2007
The spectrum of SCN1A-related infantile epileptic encephalopathiesLouise A Harkin, Jacinta M McMahon, Xenia Iona, et al.
Genome Research|March 20, 2025
Optical genome mapping enables accurate testing of large repeat expansionsBart van der Sanden, Kornelia Neveling, Syukri Shukor, et al.
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