Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.
Epilepsy Res
; 76(1): 41-8, 2007 Aug.
Article
em En
| MEDLINE
| ID: mdl-17681454
ABSTRACT
Mutations in the LGI1 (leucine-rich, glioma inactivated 1) gene are found in less than a half of the families with autosomal dominant lateral temporal epilepsy (ADLTE), suggesting that ADLTE is a genetically heterogeneous disorder. Recently, it was shown that LGI1 is released by neurons and becomes part of a protein complex at the neuronal postsynaptic density where it is implicated in the regulation of glutamate-AMPA neurotransmission. Within this complex, LGI1 binds selectively to a neuronal specific membrane protein, ADAM22 (a disintegrin and metalloprotease). Since ADAM22 serves as a neuronal receptor for LGI1, the ADAM22 gene was considered a good candidate gene for ADLTE. We have therefore sequenced all coding exons and exon-intron flanking sites in the ADAM22 gene in the probands of 18 ADLTE families negative for LGI1 mutations. Although, we identified several synonymous and non-synonymous polymorphisms, we failed to identify disease-causing mutations, indicating that ADAM22 gene is probably not a major gene for this epilepsy syndrome.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Saúde da Família
/
Epilepsia do Lobo Temporal
/
Proteínas ADAM
/
Mutação
/
Proteínas do Tecido Nervoso
Limite:
Adolescent
/
Adult
/
Child
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Female
/
Humans
/
Male
Idioma:
En
Ano de publicação:
2007
Tipo de documento:
Article