Total: 1 |
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PMID (PMCID) | ||
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25714420 |
FEMALE | Child |
A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype. | ||
Romaniello R, Saettini F, Panzeri E, Arrigoni F, Bassi MT, Borgatti R. Neuroreport. 2015;26(5):254-7. |
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On reviewing the clinical features of the reported patients with the same mutation in the STXBP1 gene, it has been observed that poor eye contact, tremour, dyskinesia, head/hand stereotypies and both cognitive and motor progressive deterioration are common symptoms, although never considered as indicative of a Rett syndrome phenotype. |