کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6005099 | 1184400 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
![عکس صفحه اول مقاله: Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation Progressive diffuse brain atrophy in West syndrome with marked hypomyelination due to SPTAN1 gene mutation](/preview/png/6005099.png)
چکیده انگلیسی
A 1-year-old male began suffering from West syndrome at 3Â months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief tonic seizures at 6Â months. Thereafter, progressive atrophy of the brain became evident by 9Â months of age, predominantly at the brainstem and cerebellum. Severe hypomyelination of the cerebral white matter was revealed at the age of 1Â year, and a de novo heterozygous mutation in the SPTAN1 gene was confirmed. The patient showed severely impaired psychomotor development, and had gained no visual attention. These findings contribute to the characterization of this recently established entity and facilitate the identification of further patients.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 35, Issue 3, March 2013, Pages 280-283
Journal: Brain and Development - Volume 35, Issue 3, March 2013, Pages 280-283
نویسندگان
Yutaka Nonoda, Yoshiaki Saito, Shigehiro Nagai, Masayuki Sasaki, Toshiyuki Iwasaki, Naomichi Matsumoto, Masahiro Ishii, Hirotomo Saitsu,