Title: Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia, and mental retardation.

Authors: M M Trudeau, J C Dalton, J W Day, L P W Ranum, M H Meisler

Journal, date & volume: J. Med. Genet., 2006 Jun , 43, 527-30

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/16236810

Abstract