Clinical Reasoning: Novel GLUT1-DS mutation: Refractory seizures and ataxia
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چکیده
منابع مشابه
Clinical reasoning: novel GLUT1-DS mutation: refractory seizures and ataxia.
Intractable epilepsy is a common diagnosis among child neurology practitioners with medical management remaining unsatisfactory in many cases. GLUT1 deficiency syndrome (GLUT1-DS) is a disorder that should be considered in such situations. Evaluation by comparing serum to CSF glucose levels is a fast and relatively easy test, with hypoglycorrhachia being highly suggestive of GLUT1-DS. Furthermo...
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ژورنال
عنوان ژورنال: Neurology
سال: 2015
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000001467