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A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Author(s) -
Phillips H. A.,
Marini C.,
Scheffer I. E.,
Sutherland G. R.,
Mulley J. C.,
Berkovic S. F.
Publication year - 2000
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/1531-8249(200008)48:2<264::aid-ana20>3.0.co;2-b
Subject(s) - epilepsy , frontal lobe , nocturnal , temporal lobe , mutation , neuroscience , psychology , genetics , biology , medicine , gene
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. Ann Neurol 2000;48:264–267