J Korean Neurol Assoc > Volume 20(6); 2002 > Article

Journal of the Korean Neurological Association 2002;20(6): 600-611.

"상염색체우성유전성 야간전두엽간질을 가진 한 가계에서 임상,전기생리학 및 유전학적 분석"

손성일 , 조용원 이상도 김대광 정두교 이 형 임정근 이주화

"을지대학교 의과대학 신경과학교실 계명대학교 의과대학 신경과학교실,해부학교실"

"Clinical, Electrophysiological, and Genetic Analysis in a Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy"

Sung Il Sohn, M.D.

"Department of Neurology, Eulji University School of Medicine Department of Neurology and Anatomy , Keimyung University School of Medicine"

Abstract

"Background : Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a distinct epilepsy syndrome and a genetically heterogeneous disorder linked to chromosomes 20q13.2, 15q24, and 1p21. Missense and insertion mutations in neuronal nicotine acetylcholine receptor 4 (CHRNA4) and 2 (CHRNB2) genes have been found in families with ADNFLE. Methods : Clinical, EEG-Video monitoring, and neuropsychologic study in a family with ADNFLE were tested. For detect of mutation gene, polymerase chain reaction for CHRNA4 gene and CHRNB2 gene, single strand conformational polymorphism (SSCP) analysis and DNA sequencing were done. R e s u l t s : Among 15 living family members in three generations, nine had seizures. EEG-Video monitoring showed ictal epileptiform discharges geneti-cally or regionally in frontal, frontocentral, frontotemporal, or temporal areas and less frequently no epileptiform dis-charges or non-specific generalized slowing. Two affected individuals demonstrated interictal temporal spikes, whereas the others were normal. Neuropsychological study showed mental retardation and decreased frontal executive function in five affected individuals. A cytosine to thymine exchange (755C>T; S252L) in exon 5 of the CHRNA4 gene was found on all affected individuals except in an individual who wasn ’t tested, but this change was absent in those without epilepsy. Conclusions : This is the first study of genetically confirmed ADNFLE in a Korean family, who had mental retardation and various EEG abnormalities, ictally and interictally."