title: Novel human pathological mutations. Gene symbol: SCN1A. Disease: generalized epilepsy with febrile seizures plus.
authors.affiliation: Department of Medical Genetics, College of Chinese Medicine, China Medical University, Asia University, China Medical University Hospital, Taichung, Taiwan, ROC.
authors.forename: I Ching
authors.initials: IC
authors.lastname: Chou
authors.forename: Wei-De
authors.initials: WD
authors.lastname: Lin
authors.forename: Fuu-Jen
authors.initials: FJ
authors.lastname: Tsai
mesh_terms: D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D004830:Epilepsy, Tonic-Clonic / Q000150:complications* / Q000235:genetics*; D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D020125:Mutation, Missense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D003294:Seizures, Febrile / Q000150:complications* / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
chemical_list: D003062:Codon; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels