کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3042353 | 1184810 | 2008 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Expansion of the ARX spectrum
دانلود مقاله + سفارش ترجمه
دانلود مقاله ISI انگلیسی
رایگان برای ایرانیان
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
عصب شناسی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
We present four patients with ARX mutations and widely variant clinical presentations. Case 1, a female with a known ARX mutation has refractory infantile spasms and severe mental retardation. Case 2, a male presented with a neurodegenerative disorder and has a known ARX mutation likely de novo as mother is not a carrier. Cases 3 and 4, two siblings with a novel variant in ARX, which is not clearly pathogenic, have developmental delay. One of the siblings had a diagnosis of autistic spectrum disorder, failure to thrive with severe feeding difficulties, intracranial hemorrhage, and seizures. There are very few affected females with ARX related infantile spasms. These cases expand the known phenotype of this emerging condition.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Clinical Neurology and Neurosurgery - Volume 110, Issue 6, June 2008, Pages 631–634
Journal: Clinical Neurology and Neurosurgery - Volume 110, Issue 6, June 2008, Pages 631–634
نویسندگان
Robert Wallerstein, Rachel Sugalski, Leora Cohn, Robert Jawetz, Michael Friez,