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Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor

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Affiliated Author(s)
조용원이상도임정근김대광
Alternative Author(s)
Cho, Yong WonYi, Sang DoLim, Jeong GeunKim, Dae Kwang
Journal Title
Epilepsy & Behavior
ISSN
1525-5050
Issued Date
2008
Abstract
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 similarities in unrelated families
suggest the determining role of this mutation in NFLE, whereas different inter- and intrafamilial cognitive
profiles point to other factors. The absence of clear motor features of NFLE in the daughter
emphasizes the shortcomings of current clinical criteria and the potential for genetic testing to further
guide clinical diagnostic criteria.
Department
Dept. of Neurology (신경과학)
Dept. of Medical Genetics (의학유전학)
Publisher
School of Medicine
Citation
Yong-Won Cho et al. (2008). Autosomal dominant nocturnal frontal lobe epilepsy and mild memory
impairment associated with CHRNB2 mutation I312M in the neuronal
nicotinic acetylcholine receptor. Epilepsy & Behavior, 13(2), 361–365. doi: 10.1016/j.yebeh.2008.04.017
Type
Article
ISSN
1525-5050
DOI
10.1016/j.yebeh.2008.04.017
URI
https://kumel.medlib.dsmc.or.kr/handle/2015.oak/35639
Appears in Collections:
1. School of Medicine (의과대학) > Dept. of Medical Genetics (의학유전학)
1. School of Medicine (의과대학) > Dept. of Neurology (신경과학)
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