Spectrum of SCN1A mutations in severe myoclonic epilepsy of infancy. [electronic resource]
Producer: 20040322Description: 1961-7 p. digitalISSN:- 1526-632X
- 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
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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