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Nature Genetics|June 6, 2006
Mutations in the gene encoding GlyT2 (SLC6A5) define a presynaptic component of human startle diseaseMark I Rees, Kirsten Harvey, Brian R Pearce, 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.
Brain : a Journal of Neurology|June 18, 2010
Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)Philippa B Mills, Emma J Footitt, Kevin A Mills, et al.
Epilepsia Open|September 11, 2020
Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study groupJoerg Klepper, Cigdem Akman, Marisa Armeno, et al.
American Journal of Human Genetics|January 17, 2012
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeSarah E Heron, Bronwyn E Grinton, Sara Kivity, et al.
Brain : a Journal of Neurology|June 13, 2022
The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implicationsAndreas Brunklaus, Tobias Brünger, Tony Feng, et al.
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