Novel SCN1A frameshift mutation with absence of truncated Nav1.1 protein in severe myoclonic epilepsy of infancy.
McArdle
Erin J
EJ
Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee.
Kunic
Jennifer D
JD
George
Alfred L
AL
D000328:Adult; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D006801:Humans; D008297:Male; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels