Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene.
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE; MIM 600513) has been associated with mutations in the genes coding for the alfa-4 (CHRNA4), beta-2 (CHRNB2), and alpha-2 (CHRNA2) subunits of the neuronal nicotinic acetylcholine receptor (nAChR) and for the corticotropin-releasing hormone (CRH). A four-generation ADNFLE family with six affected members was identified. All affected members presented the clinical characteristics of ADNFLE. Interictal awake and sleep EEG recordings showed no epileptiform abnormalities. Ictal video-EEG recordings showed focal seizures with frontal lobe semiology. Mutation analysis of the CHRNB2 gene revealed a c.859G>A transition (Val287Met) within the second transmembrane domain, identical to that previously described in a Scottish ADNFLE family. To our knowledge, this is the third family reported presenting a mutation in CHRNB2. The clinical phenotype appears similar to that described with mutations in CHRNA4, suggesting that mutations in these two subunits lead to similar functional alterations of the nAChR.
Díaz-Otero
Fernando
F
Epilepsy Unit, Neurology Service, Fundación Jiménez Díaz, Madrid, Spain.
Quesada
Mar
M
Morales-Corraliza
José
J
Martínez-Parra
Carlos
C
Gómez-Garre
Pilar
P
Serratosa
José M
JM
D000328:Adult; D017668:Age of Onset; D004252:DNA Mutational Analysis; D004569:Electroencephalography / Q000706:statistics & numerical data; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics*; D005260:Female; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D010375:Pedigree; D010641:Phenotype; D011978:Receptors, Nicotinic / Q000235:genetics*; D017421:Sequence Analysis; D012890:Sleep / Q000235:genetics / Q000502:physiology; D012893:Sleep Wake Disorders / Q000175:diagnosis / Q000453:epidemiology / Q000235:genetics; D013030:Spain / Q000453:epidemiology; D014743:Videotape Recording; D014851:Wakefulness / Q000502:physiology; D044465:White People / Q000235:genetics
D011978:Receptors, Nicotinic