De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
About this item
Full title
Author / Creator
Publisher
England: BioMed Central
Journal title
Language
English
Formats
Publication information
Publisher
England: BioMed Central
Subjects
More information
Scope and Contents
Contents
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 account for the majority of these cases.
We describe two female...
Alternative Titles
Full title
De novo mutations in SCN1A are associated with classic Rett syndrome: a case report
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_896308df37b3418697f03f1d2fb1d51e
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_896308df37b3418697f03f1d2fb1d51e
Other Identifiers
ISSN
1471-2350
E-ISSN
1471-2350
DOI
10.1186/s12881-018-0700-z
