title: A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation.
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 alpha4 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.
authors: Department of Neurology, Georgetown University Hospital, Washington, D.C. 20007, USA.
authors: Yong-Won
authors: YW
authors: Cho
authors: Gholam K
authors: GK
authors: Motamedi
authors: Iris
authors: I
authors: Laufenberg
authors: Sung-Il
authors: SI
authors: Sohn
authors: Jeong-Geun
authors: JG
authors: Lim
authors: Hyung
authors: H
authors: Lee
authors: Sang-Doe
authors: SD
authors: Yi
authors: Ju-Hwa
authors: JH
authors: Lee
authors: Dae-Kwang
authors: DK
authors: Kim
authors: Richard
authors: R
authors: Reba
authors: William D
authors: WD
authors: Gaillard
authors: William H
authors: WH
authors: Theodore
authors: Ronald P
authors: RP
authors: Lesser
authors: Ortrud K
authors: OK
authors: Steinlein
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology / Q000503:physiopathology; D004252:DNA Mutational Analysis; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000150:complications* / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D005799:Genes, Dominant; D006801:Humans; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D007723:Korea; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009483:Neuropsychological Tests; D010375:Pedigree; D019683:Penetrance; D011978:Receptors, Nicotinic / Q000235:genetics; D014055:Tomography, Emission-Computed
chemical_list: D011978:Receptors, Nicotinic