Condition: Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
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.