Ataxia, tremor, intellectual disability: a case of STXBP1 encephalopathy with a new mutation

STXBP1 gene mutations are among the most common mutations in earlyonset epileptic encephalopathies. The clinical spectrum of STXBP1 mutations is not limited to epileptic phenotypes and also includes atypical Rett syndrome and non-syndromic sporadic severe intellectual disability. Tremor, dystonia,...

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Bibliographic Details

Published in:	The Turkish Journal of Pediatrics
Main Authors:	Aydan Değerliyurt, Gamze Gezgen Kesen, Serdar Ceylaner
Format:	Article
Language:	English
Published:	Hacettepe University Institute of Child Health 2019-10-01
Subjects:	STXBP1 ataxia epileptic encephalopathy intellectual disability tremor
Online Access:	https://turkjpediatr.org/article/view/764