Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45
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چکیده
منابع مشابه
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
Dravet syndrome (DS) is a genetically determined epileptic encephalopathy mainly caused by de novo mutations in the SCN1A gene. Since 2003, we have performed molecular analyses in a large series of patients with DS, 27% of whom were negative for mutations or rearrangements in SCN1A. In order to identify new genes responsible for the disorder in the SCN1A-negative patients, 41 probands were scre...
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The C10orf2 gene encodes the mitochondrial DNA helicase Twinkle, which is one of the proteins important for mitochondrial DNA maintenance. Dominant mutations cause multiple mitochondrial DNA deletions and progressive external ophthalmoplegia, but recent findings associate recessive mutations with mitochondrial DNA depletion and encephalopathy or hepatoencephalopathy. The latter clinical phenoty...
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Key-words Disease name / synonyms Definition / diagnostic criteria Differential diagnosis Etiology Clinical description Diagnostic methods Epidemiology Genetic counselling Treatment Unresolved questions References Abstract Early infantile epileptic encephalopathy (EIEE) or Ohtahara syndrome is the earliest form of agedependent encephalopathies, which include also West syndrome and Lennox-Gastau...
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ژورنال
عنوان ژورنال: Epilepsia
سال: 2017
ISSN: 0013-9580
DOI: 10.1111/epi.13957