Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor
作者: Yong-Won ChoSang-Doe YiJeong-Geun LimDae-Kwang KimGholam K. Motamedi
作者单位: 1Department of Neurology, Dongsan Medical Center, Keimyung Medical Center, Keimyung University, Daegu, Republic of Korea
2Department of Anatomy, Dongsan Medical Center, Keimyung University, Daegu, Republic of Korea
3Hanvit Institute for Medical Genetics, Daegu, Republic of Korea
4Department of Neurology, Georgetown University Hospital, Washington, DC, USA
刊名: Epilepsy and Behavior, 2008, Vol.13 (2), pp.361-365
来源数据库: Elsevier Journal
DOI: 10.1016/j.yebeh.2008.04.017
关键词: Nocturnal frontal lobe epilepsyParoxysmal nocturnal behaviorCHRNB2MemorySeizureEpilepsyNeurogeneticsAcetylcholine receptor
英文摘要: Abstract(#br)Certain paroxysmal nocturnal behaviors have been established as features of nocturnal frontal lobe epilepsy (NFLE). Despite insight into its genetics, the majority of patients with NFLE are not linked to a known mutation and clinical diagnosis remains a challenge. We describe a family presenting with stereotyped nocturnal arousals from non-rapid eye movement sleep, bilateral hand posturing, and pelvic thrusting in the mother, but subtle motor activity in the daughter, and minimal or no epileptiform EEG discharges. Despite normal IQ, there were moderate and severe verbal memory deficits in the mother and daughter, respectively. Genetic testing revealed the CHRNB2 mutation I312M in transmembrane region 3 (M3) of the neuronal nicotinic acetylcholine receptor. Phenotypic...
全文获取路径: Elsevier  (合作)
影响因子:1.844 (2012)