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Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy.
Pediatr Neurol. 2006 Feb;34(2):116-20. doi: 10.1016/j.pediatrneurol.2005.07.009.
Pediatr Neurol. 2006.
PMID: 16458823
Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.
Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH.
Trudeau MM, et al.
J Med Genet. 2006 Jun;43(6):527-30. doi: 10.1136/jmg.2005.035667. Epub 2005 Oct 19.
J Med Genet. 2006.
PMID: 16236810
Free PMC article.
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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.
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