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A Korean Kindred With Autosomal Dominant Nocturnal Frontal Lobe Epilepsy and Mental Retardation

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Author(s)
조용원손성일임정근이형이상도김대광
Alternative Author(s)
Cho, Yong WonSohn, Sung IlLim, Jeong GeunLee, HyungYi, Sang DoKim, Dae Kwang
Publication Year
2003
Abstract
Background A Korean family had distinctive clinical and neuroimaging features and carried the same genetic mutation that was found in a previously described Japanese kindred with autosomal dominant nocturnal frontal lobe epilepsy.

Objective To describe the first Korean family with autosomal dominant nocturnal frontal lobe epilepsy.

Methods Members of a large family, including 9 affected individuals from 3 generations, underwent a comprehensive genetic, clinical, electroencephalographic, neuropsychological, and neuroimaging evaluation. Affected members were tested for possible mutations in transmembrane regions 1 through 3 of the neuronal nicotinic acetylcholine receptor α4 subunit (CHRNA4) by direct sequencing and subsequent restriction analysis.

Results Seizures began in childhood, presenting as nocturnal episodes of staring, confusion, shouting, perioral movements, unintelligible speech, and hand waving. Some patients had ictal or interictal epileptiform activity in the temporal and/or frontocentral areas. Neurological examination and brain magnetic resonance imaging results showed no abnormalities, except that all patients available for testing had mild to moderate mental retardation. Fluorodeoxyglucose F 18 with positron emission tomography showed mild decreased glucose uptake in the superior and middle frontal regions, more so on the left than on the right. Patient response to carbamazepine was poor. All affected members were heterozygous for the CHRNA4 Ser252Leu mutation.

Conclusions Disorders associated with mutations in the transmembrane region 2 of CHRNA4 are genetically and phenotypically heterogeneous. Distinctive features of this kindred include (1) mental retardation in all affected members available for testing, (2) abnormal brain findings on fluorodeoxyglucose F 18 with positron emission tomography, (3) poor response to carbamazepine, and (4) full penetrance.
Department
Dept. of Neurology (신경과학)
Dept. of Medical Genetics(의학유전학)
Publisher
School of Medicine
Citation
Archives of Neurlogy, Vol.60(11) : 1625-1632, 2003
Type
Article
ISSN
0003-9942
DOI
10.1001/archneur.60.11.1625
URI
http://kumel.medlib.dsmc.or.kr/handle/2015.oak/35077
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