کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3036429 1406322 2016 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Ketogenic diet - A novel treatment for early epileptic encephalopathy due to PIGA deficiency
چکیده انگلیسی
We describe the presentation and workup of two brothers with early-onset epileptic encephalopathy who became seizure-free on a ketogenic diet. Extensive testing culminated in whole exome sequencing, which led to the diagnosis of phosphatidyl inositol glycan biosynthesis class A protein (PIGA) deficiency. This familial case highlights the importance of genetic testing for early-onset epileptic encephalopathies and underscores the potential value of a ketogenic diet in the treatment of this condition.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Brain and Development - Volume 38, Issue 9, October 2016, Pages 848-851
نویسندگان
, , , , , ,