کد مقاله کد نشریه سال انتشار مقاله انگلیسی ترجمه فارسی نسخه تمام متن
371035 621894 2016 6 صفحه PDF ندارد دانلود رایگان
عنوان انگلیسی مقاله
Epilepsy and cataplexy in Angelman syndrome. Genotype-phenotype correlations
ترجمه فارسی عنوان
صرع و خواب حیوانی در سندرم آنجلمن. ارتباط ژنوتیپ فنوتیپ
کلمات کلیدی
سندرم آنجلمن؛ 15q11.2-Q13؛ صرع؛ تشنج؛ خواب حیوانی
Angelman syndrome; 15q11.2–q13; Epilepsy; Seizures; Cataplexy
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب رفتاری
چکیده انگلیسی


• All children with AS due to a deletion developed epilepsy.
• Epilepsy onset occurred significantly earlier among children with deletion compared to children with UBE3A mutation or pUPD.
• Laughter-induced postural muscle tone loss occurred only among deletion cases.
• We found no differences in severity of epilepsy between children with Class I or Class II deletions.
• The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.

BackgroundAngelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, epilepsy, and low threshold for laughter.AimsWe investigated the occurrence and severity of epilepsy and laughter-induced loss of postural muscle tone determined by the different genetic subtypes.MethodsThis study included 39 children with AS. Deletion breakpoints were determined by high resolution CGH microarray (1 × 1 M Agilent). Clinical data were based on a parent interview and medical record review.ResultsAll patients with AS based on a deletion had epilepsy. Epilepsy was present in 3/4 children with UBE3A mutation, and 4/5 with pUPD. Onset of epilepsy occurred earlier in deletion cases compared to pUPD or UBE3A mutations cases. Laughter-induced postural muscle tone loss occurred only among deletion cases. We found no differences in severity of epilepsy between children with a larger Class I or a smaller Class II deletions, or between the total group with a deletion compared to children with pUPD or a UBE3A mutation. The drugs most frequently prescribed were benzodiazepines in monotherapy, or a combination of benzodiazepines and valproic acid.ConclusionEpilepsy is very common in patients with AS, especially in patients with a deletion. Postural muscle tone loss and collapsing during outbursts of laughter were seen in patients with a deletion only.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Research in Developmental Disabilities - Volume 56, September 2016, Pages 177–182
نویسندگان
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