کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10308624 | 548387 | 2005 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب رفتاری
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree A novel SCN1A mutation associated with severe GEFS+ in a large South American pedigree](/preview/png/10308624.png)
چکیده انگلیسی
Generalized epilepsy with febrile seizures plus (GEFS+) is an inherited epileptic syndrome with a marked clinical and genetic heterogeneity. Here we report the molecular characterization of a large pedigree with a severe clinical form of GEFS+. Genetic linkage analysis implied the involvement of the FEB3 in the disease phenotype of this family (parametric two-point lod-score of 2.2). Sequencing of the SCN1A gene revealed a novel aspartic acid for glycine substitution at position 1742 of this sodium channel subunit. The amino-acid replacement lies in the pore-forming region of domain IV of SCN1A. Our observations are consistent with the genotype-phenotype correlation studies suggesting that mutations in the pore-forming loop of SCN1A can lead to a clinically more severe epileptic syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seizure - Volume 14, Issue 2, March 2005, Pages 123-128
Journal: Seizure - Volume 14, Issue 2, March 2005, Pages 123-128
نویسندگان
N. Pineda-Trujillo, J. Carrizosa, W. Cornejo, W. Arias, C. Franco, D. Cabrera, G. Bedoya, A. RuÃz-Linares,