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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| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Hacettepe University Institute of Child Health
2019-10-01
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| Series: | The Turkish Journal of Pediatrics |
| Subjects: | |
| Online Access: | https://turkjpediatr.org/article/view/764 |
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