Infantile Spasms and Hyperekplexia Associated With Isolated Sulfite Oxidase Deficiency
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چکیده
منابع مشابه
Infantile spasms and hyperekplexia associated with isolated sulfite oxidase deficiency.
IMPORTANCE Isolated sulfite oxidase deficiency (ISOD) causes severe intellectual disability, epilepsy, and shortened life expectancy. Intractable seizures are invariable in children with ISOD; however, to our knowledge, infantile spasms with a corresponding hypsarrhythmia pattern on electroencephalogram have never been reported. In addition, the nonepileptic paroxysmal movement disorder hyperek...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2014
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.5083