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

Abstract 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...

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Bibliographic Details
Main Authors: Mari Wold Henriksen, Kirstine Ravn, Benedicte Paus, Stephen von Tetzchner, Ola H Skjeldal
Format: Article
Language:English
Published: BMC 2018-10-01
Series:BMC Medical Genetics
Subjects:
Rett syndrome
Epilepsy
Genetics
SCN1A
Dravet syndrome
Online Access:http://link.springer.com/article/10.1186/s12881-018-0700-z

Internet

http://link.springer.com/article/10.1186/s12881-018-0700-z

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