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De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
BACKGROUND: Rett syndrome (RTT) is a neurodevelopmental disorder. In more than 95% of females with classic RTT a pathogenic mutation in MECP2 has been identified. This leaves a small fraction of classic cases with other genetic causes. So far, there has not been reported any other gene that may acco...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2018
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6180591/ https://www.ncbi.nlm.nih.gov/pubmed/30305042 http://dx.doi.org/10.1186/s12881-018-0700-z |