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

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 prese...

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Bibliographic Details
Published in:Epilepsy & behavior 2008-08, Vol.13 (2), p.361-365
Main Authors: Cho, Yong-Won, Yi, Sang-Doe, Lim, Jeong-Geun, Kim, Dae-Kwang, Motamedi, Gholam K
Format: Article
Language:English
Subjects:
Acetylcholine receptor
Adult
Alleles
Amino Acid Substitution
CHRNB2
Chromosome Aberrations
Codon - genetics
Diagnosis, Differential
DNA Mutational Analysis
Epilepsy
Epilepsy, Frontal Lobe - diagnosis
Epilepsy, Frontal Lobe - genetics
Female
Frontal Lobe - physiopathology
Genes, Dominant - genetics
Genetic Carrier Screening
Genetic Testing
Gyrus Cinguli - blood supply
Humans
Isoleucine - genetics
Membrane Proteins - genetics
Memory
Memory Disorders - diagnosis
Memory Disorders - genetics
Methionine - genetics
Middle Aged
Mutation, Missense
Neurogenetics
Neurology
Neuropsychological Tests
Nocturnal frontal lobe epilepsy
Nocturnal Paroxysmal Dystonia - diagnosis
Nocturnal Paroxysmal Dystonia - genetics
Paroxysmal nocturnal behavior
Pedigree
Phenotype
Polymerase Chain Reaction
Polymorphism, Single-Stranded Conformational
Polysomnography
Receptors, Nicotinic - genetics
Regional Blood Flow - physiology
Seizure
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Summary: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.
ISSN:1525-5050
1525-5069
DOI:10.1016/j.yebeh.2008.04.017