Clinical, Electrophysiological, and Genetic Analysis in a Family with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Journal of the Korean Neurological Association
; : 600-611, 2002.
Artigo
em Coreano
| WPRIM (Pacífico Ocidental)
| ID: wpr-124514
Biblioteca responsável:
WPRO
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.RESULTS:
Among 15 living family members in three generations, nine had seizures. EEG-Video monitoring showed ictal epileptiform discharges genetically or regionally in frontal, frontocentral, frontotemporal, or temporal areas and less frequently no epileptiform discharges 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.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Convulsões
/
Timina
/
Acetilcolina
/
Características da Família
/
Reação em Cadeia da Polimerase
/
Éxons
/
Mutagênese Insercional
/
Epilepsia do Lobo Frontal
/
Análise de Sequência de DNA
/
Citosina
Limite:
Humanos
Idioma:
Coreano
Revista:
Journal of the Korean Neurological Association
Ano de publicação:
2002
Tipo de documento:
Artigo