Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder.

Mhanni, A A

Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. [electronic resource] - Seizure Nov 2011 - 711-2 p. digital

Publication Type: Case Reports; Journal Article

1532-2688

10.1016/j.seizure.2011.06.014 doi


Child, Preschool
Epilepsy--diagnosis
Gene Expression Regulation
Genes, Dominant
Genetic Variation--genetics
Humans
Leucine--genetics
Male
Mutation, Missense--genetics
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins--biosynthesis
Pedigree
Seizures, Febrile--diagnosis
Sodium Channels--biosynthesis
Valine--genetics