De novo mutations in SCN1A are associated with classic Rett syndrome: a case report

• Hauptverfasser: Mari Wold Henriksen (Verfasst von), Kirstine Ravn (Verfasst von), Benedicte Paus (Verfasst von), Stephen von Tetzchner (Verfasst von), Ola H Skjeldal (Verfasst von)
• Format: Buch
• Veröffentlicht: BMC, 2018-10-01T00:00:00Z.
• Schlagworte: article
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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...