کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3053016 1186138 2007 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy
چکیده انگلیسی

SummaryMutations 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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy Research - Volume 76, Issue 1, August 2007, Pages 41–48
نویسندگان
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