کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3091246 | 1190344 | 2006 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
The Neurobiology of Tuberous Sclerosis Complex
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
Tuberous sclerosis complex (TSC) is a multiorgan genetic disease caused by inactivation of either the TSC1 or TSC2 genes. The disorder typically has profound neurologic involvement and often presents early in life with epilepsy, developmental delay, mental retardation, and autism. These features are generally accepted to result from structural brain abnormalities that are found in patients with TSC. Although much progress has recently been made in discerning the function(s) of the TSC genes, many questions remain as to the role of these genes in brain development and homeostasis. This review will summarize recent progress and suggest future avenues of basic science research.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Pediatric Neurology - Volume 13, Issue 1, March 2006, Pages 37-42
Journal: Seminars in Pediatric Neurology - Volume 13, Issue 1, March 2006, Pages 37-42
نویسندگان
Kevin C. MD, PhD,