Article
Genetic and clinical variations in a Norwegian sample diagnosed with Rett syndrome.
Brain & development - 1 Aug 2020
Henriksen Mari Wold, Breck Hilde, Sejersted Yngve, Diseth Trond, von Tetzchner Stephen, Paus Benedicte, Skjeldal Ola H
Abstract excerpt
BACKGROUND AND PURPOSE: Rett syndrome (RTT) is a neurodevelopmental disorder mainly caused by mutations in MECP2. The diagnostic criteria of RTT are clinical; mutations in MECP2 are neither diagnostic nor necessary, and a mutation in another gene does not exclude RTT. We attempted to correlate genotype and phenotype to see if there are significant clinical associations. METHODS: All available females diagnosed...
Topics
- Adolescent
- Adult
- Aged
- Child
- Child, Preschool
- Epilepsy
- Female
- Genetic Variation
- Humans
- Infant
- Methyl-CpG-Binding Protein 2
- Middle Aged
- Norway
- Phenotype
- Registries
- Rett Syndrome
- Severity of Illness Index
- Exome Sequencing