Nabbout, R

Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. [electronic resource] - Neurology Jun 2003 - 1961-7 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000069463.41870.2f doi


Adult
Age of Onset
Chromatography, High Pressure Liquid
DNA Mutational Analysis
Epilepsy, Absence--genetics
Ethnicity--genetics
Female
France--epidemiology
Genetic Heterogeneity
Genetic Predisposition to Disease
Genotype
Humans
Infant
Intellectual Disability--genetics
Italy--epidemiology
Male
Myoclonic Epilepsy, Juvenile--epidemiology
NAV1.1 Voltage-Gated Sodium Channel
Nerve Tissue Proteins--genetics
Phenotype
Sodium Channels--genetics