Variant: rs121909580

present in Gene: CHRNA4 present in Chromosome: 20 Position on Chromosome: 63350572 Alleles of this Variant: G/A;C

rs121909580 in CHRNA4 gene and Epilepsy, Nocturnal Frontal Lobe, Type 1 PMID 7550350 1995 A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 14623738 2003 A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.

PMID 10563623 1999 A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy.