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Article

Genetic and epileptic features in Rett syndrome.

Yonsei medical journal - 1 May 2012

Kim Hyo Jeong, Kim Shin Hye, Kim Heung Dong, Lee Joon Soo, Lee Young-Mock, Koo Kyo Yeon, Lee Jin Sung, Kang Hoon-Chul

Abstract excerpt

PURPOSE: Rett syndrome is a severe neurodevelopmental disorder in females. Most have mutations in the methyl-CpG-binding protein 2 (MECP2) gene (80-90%). Epilepsy is a significant commonly accompanied feature in Rett syndrome. Our study was aimed at comprehensive analysis of genetic and clinical features in Rett syndrome patients, especially in regards to epileptic features. MATERIALS AND METHODS: We...

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Source

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Identifiers

PMID: 22476991
DOI: 10.3349/ymj.2012.53.3.495
PMCID: PMC3343433

Genes

MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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