کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10309935 | 548842 | 2012 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب رفتاری
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![عکس صفحه اول مقاله: Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes](/preview/png/10309935.png)
چکیده انگلیسی
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) is a rare familial seizure disorder caused by mutations in at least two different subunit genes of the neuronal nicotinic acetylcholine receptor (nAChR), CHRNA4 and CHRNB2. ADNFLE was initially described as a “pure” seizure disorder with a mostly benign course. We have analysed the clinical features of 19 ADNFLE families from 12 countries with a total of 150 patients and grouped them with respect to their nAChR mutations. These data suggest that certain nAChR mutations might be associated with an increased risk for major neurological symptoms such as mental retardation, schizophrenia-like symptoms or marked cognitive deficits, but the risk for these disorders seems to be low for most other ADNFLE mutations. The functional data confirm that the mutations differ from each other with respect to the size of their gain-of function effects and other biopharmacological characteristics although these functional changes are not predictive for the severity of the clinical phenotype.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seizure - Volume 21, Issue 2, March 2012, Pages 118-123
Journal: Seizure - Volume 21, Issue 2, March 2012, Pages 118-123
نویسندگان
Ortrud K. Steinlein, Jean-Charles Hoda, Sonia Bertrand, Daniel Bertrand,