Autosomal dominant epilepsy with febrile seizures plus with missense mutations of the (Na+)-channel α1 subunit gene, SCN1A

M Ito, H Nagafuji, H Okazawa, K Yamakawa… - Epilepsy research, 2002 - Elsevier
Evidence that febrile seizures have a strong genetic predisposition has been well
documented. In families of probands with multiple febrile convulsions, an autosomal
dominant inheritance with reduced penetrance is suspected. Four candidate loci for febrile
seizures have been suggested to date; FEB1 on 8q13–q21, FEB2 on 19p, FEB3 on 2q23–
q24, and FEB4 on 5q14–15. A missense mutation was identified in the voltage-gated
sodium (Na+)-channel β1 subunit gene, SCN1B at chromosome 19p13. 1 in generalized …