Variable expressivity of a novel mutation in the SCN1A gene leading to an autosomal dominant seizure disorder. [electronic resource]
Producer: 20120730Description: 711-2 p. digitalISSN:- 1532-2688
- 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
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Publication Type: Case Reports; Journal Article
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