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Article

CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.

BMC medical genetics - 6 Aug 2012

Maortua Hiart, Martínez-Bouzas Cristina, Calvo María-Teresa, Domingo Maria-Rosario, Ramos Feliciano, García-Ribes Ainhoa, Martínez María-Jesús, López-Aríztegui María-Asunción, Puente Nerea, Rubio Izaskun, Tejada María-Isabel

Abstract excerpt

BACKGROUND: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) located in the Xp22 region have been shown to cause a subset of atypical Rett syndrome with infantile spasms or early seizures starting in the first postnatal months. METHODS: We performed mutation screening of CDKL5 in 60 female patients who had been identified as negative for the methyl CpG-binding protein 2 gene (MECP2) mutations, but who...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Multiplex Polymerase Chain Reaction

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Source

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Identifiers

PMID: 22867051
DOI: 10.1186/1471-2350-13-68
PMCID: PMC3489578

Genes

CDKL5
MECP2

Variants

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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CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.PMID 22867051Read ↗

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