کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
6016074 1579920 2012 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی عصب شناسی
پیش نمایش صفحه اول مقاله
KCNQ2 abnormality in BECTS: Benign childhood epilepsy with centrotemporal spikes following benign neonatal seizures resulting from a mutation of KCNQ2
چکیده انگلیسی
The molecular pathogenesis of benign childhood epilepsy with centrotemporal spikes (BECTS) remains unclear whereas mutations of the KCNQ2 and KCNQ3 genes have been identified as causes of benign familial neonatal convulsions. We report here a girl with benign neonatal convulsions followed by BECTS, for whom a mutation of KCNQ2 was identified. This case may provide the clue to the understanding of the molecular pathogenesis of BECTS.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Epilepsy Research - Volume 102, Issues 1–2, November 2012, Pages 122-125
نویسندگان
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