Pathogenic Variants in <i>STXBP1</i> and in Genes for GABAa Receptor Subunities Cause Atypical Rett/Rett-like Phenotypes
Rett syndrome (RTT) is a neurodevelopmental disorder, affecting 1 in 10,000 girls. Intellectual disability, loss of speech and hand skills with stereotypies, seizures and ataxia are recurrent features. Stringent diagnostic criteria distinguish classical Rett, caused by a <i>MECP2</i> pat...
Main Authors: | , , , , , , , , , , , , , , , , , , |
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Format: | Article |
Language: | English |
Published: |
MDPI AG
2019-07-01
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Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/20/15/3621 |