Variant: rs28931591 

    present in Gene: CHRNA4
    present in Chromosome: 20
    Position on Chromosome: 63350560
    Alleles of this Variant: G/A

rs28931591 in CHRNA4 gene and Autosomal Dominant Nocturnal Frontal Lobe Epilepsy PMID 19237585 2009 Nicotine normalizes intracellular subunit stoichiometry of nicotinic receptors carrying mutations linked to autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22118295 2012 A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy.

PMID 12887446 2003 This is the first report of an occurrence of c.851C>T transition in a white family with ADNFLE.

PMID 10939581 2000 A de novo mutation in sporadic nocturnal frontal lobe epilepsy.

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

rs28931591 in CHRNA4 gene and Seizures PMID 10643924 2000 Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family.

PMID 12887446 2003 Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy.

PMID 22883468 2013 Autism in siblings with autosomal dominant nocturnal frontal lobe epilepsy.

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

PMID 22036597 2012 Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes.

PMID 19020039 2008 Rats harboring S284L Chrna4 mutation show attenuation of synaptic and extrasynaptic GABAergic transmission and exhibit the nocturnal frontal lobe epilepsy phenotype.

PMID 21753767 2011 Autosomal dominant nocturnal frontal lobe epilepsy: a genotypic comparative study of Japanese and Korean families carrying the CHRNA4 Ser284Leu mutation.

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

PMID 11904236 2002 Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.