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Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. Kearney JA, et al. Among authors: trudeau mm. Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009. Pediatr Neurol. 2006. PMID: 16458823
Gene symbol: SCN8A. Disease: Ataxia. Accession #Hd0520.
Meisler MH, Trudeau MM, Dalton JC, Day JW, Ranum LP. Meisler MH, et al. Among authors: trudeau mm. Hum Genet. 2006 Feb;118(6):776. Hum Genet. 2006. PMID: 17297687 No abstract available.