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Abnormal galactoside excretion in urine of a patient with early myoclonic epileptic encephalopathy

✍ Scribed by Jean-Claude Michalski; Stéphane Bouquelet; Jean Montreuil; Gérard Strecker; Olivier Dulac; Arnold Munnich


Book ID
115824834
Publisher
Elsevier Science
Year
1984
Tongue
English
Weight
545 KB
Volume
137
Category
Article
ISSN
0009-8981

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## Abstract Recent studies have shown that haploinsufficiency of __MEF2C__ causes severe intellectual disability, epilepsy, hypotonia, and cerebral malformations. We report on a female patient with severe intellectual disability, early‐onset epileptic encephalopathy, and hypoplastic corpus callosum