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

• DOI: 10.1001/archneur.60.11.1625
• Publication Date: 2003-11-17T21:33:45Z
• Authors: Yong-Won Cho; Gholam K. Motamedi; Iris Laufenberg; Sung-Il Sohn; Jeong-Geun Lim; Hyung Lee; Sang-Doe Yi; Ju-Hwa Lee; Dae-Kwang Kim; Richard Reba; William D. Gaillard; William H. Theodore; Ronald P. Lesser; Ortrud K. Steinlein
• Keywords: Frontal lobe; Proband

Background: A Korean family had distinctive clinical and neuroimaging features carried the same genetic mutation that was found in a previously described Japanese kindred with autosomal dominant nocturnal frontal lobe epilepsy.Objective: To describe first epilepsy.Methods: Members of large family, including 9 affected individuals from 3 generations, underwent comprehensive genetic, clinical, electroencephalographic, neuropsychological, evaluation.Affected members were tested for possible mutations transmembrane regions 1 through neuronal nicotinic acetylcholine receptor ␣4 subunit (CHRNA4) by direct sequencing subsequent restriction analysis.Results: Seizures began childhood, presenting as episodes staring, confusion, shouting, perioral movements, unintelligible speech, hand waving.Some patients ictal or interictal epilepti-form activity temporal and/or frontocentral areas.Neurological examination brain magnetic resonance imaging results showed no abnormalities, except all available testing mild to moderate mental retardation.Fluorodeoxyglucose F 18 positron emission tomography decreased glucose uptake superior middle regions, more so on left than right.Patient response carbamazepine poor.All heterozygous CHRNA4 Ser252Leu mutation.Conclusions: Disorders associated region 2 are genetically phenotypically heterogeneous.Distinctive this include (1) retardation testing, (2) abnormal findings fluorodeoxyglucose tomography, (3) poor carbamazepine, (4) full penetrance.