Clinical correlations of mutations in the SCN1A gene: from febrile seizures to severe myoclonic epilepsy in infancy. [electronic resource]
Producer: 20040802Description: 236-43 p. digitalISSN:- 0887-8994
- Child
- Child, Preschool
- Codon, Nonsense -- genetics
- DNA Mutational Analysis
- Electroencephalography
- Epilepsies, Myoclonic -- diagnosis
- Epilepsy, Generalized -- diagnosis
- Exons -- genetics
- Female
- Frameshift Mutation -- genetics
- Genotype
- Humans
- Infant
- Intellectual Disability -- diagnosis
- Male
- Mutation, Missense -- genetics
- NAV1.1 Voltage-Gated Sodium Channel
- Nerve Tissue Proteins -- genetics
- Phenotype
- Seizures, Febrile -- diagnosis
- Sodium Channels -- genetics
- Syndrome
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Publication Type: Journal Article
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