Novel human pathological mutations. Gene symbol: SCN1A. Disease: Myoclonic epilepsy of infancy.
Cosenza, ISN-CNR, Mangone, Italy. e.rocca@isn.cnr.it
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D019943:Amino Acid Substitution; D001483:Base Sequence; D003062:Codon / Q000235:genetics; D018389:Codon, Nonsense; D004831:Epilepsies, Myoclonic / Q000235:genetics*; D006801:Humans; D007223:Infant; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins / Q000235:genetics*; D015222:Sodium Channels / Q000235:genetics*
D003062:Codon; D018389:Codon, Nonsense; D062550:NAV1.1 Voltage-Gated Sodium Channel; D009419:Nerve Tissue Proteins; C568242:SCN1A protein, human; D015222:Sodium Channels