A de novo mutation in sporadic nocturnal frontal lobe epilepsy.
Autosomal dominant nocturnal frontal lobe epilepsy is sometimes due to mutations in CHRNA4. The commoner presentation of sporadic nocturnal frontal lobe epilepsy has not been associated with genetic defects. A 30-year-old woman diagnosed as having sporadic nocturnal frontal lobe epilepsy was found to have a de novo Ser252Leu CHRNA4 mutation. A pattern is emerging of site-specific mutation within the second transmembrane domain of CHRNA4 in association with autosomal dominant nocturnal frontal lobe epilepsy and sporadic nocturnal frontal lobe epilepsy in families with different ethnic backgrounds.
Phillips
H A
HA
Department of Cytogenetics and Molecular Genetics, Centre for Medical Genetics, Women's and Children's Hospital, North Adelaide, South Australia, Australia.
Marini
C
C
Scheffer
I E
IE
Sutherland
G R
GR
Mulley
J C
JC
Berkovic
S F
SF
D000328:Adult; D004252:DNA Mutational Analysis; D017034:Epilepsy, Frontal Lobe / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D012893:Sleep Wake Disorders / Q000235:genetics* / Q000503:physiopathology