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Article

Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.

Neuromolecular medicine - 1 Mar 2013

Das Dhanjit Kumar, Mehta Bhakti, Menon Shyla R, Raha Sarbani, Udani Vrajesh

Abstract excerpt

Rett syndrome is a severe neurodevelopmental disorder, almost exclusively affecting females and characterized by a wide spectrum of clinical manifestations. Both the classic and atypical forms of Rett syndrome are primarily due to mutations in the methyl-CpG-binding protein 2 (MECP2) gene. Mutati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 23242510
DOI: 10.1007/s12017-012-8212-z

Genes

CDKL5
MECP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23242510-2026-09-04.1. Manifest publication-graph-cohort-2026-09-04.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome.PMID 23242510Read ↗

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Spectrum of MECP2 gene mutations in a cohort of Indian patients with Rett syndrome: report of two novel mutations.Semantic proximity Read ↗

A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype.Semantic proximity Read ↗

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation.Semantic proximity Read ↗

Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy.Semantic proximity Read ↗

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

A novel p.Arg970X mutation in the last exon of the CDKL5 gene resulting in late-onset seizure disorder.Semantic proximity Read ↗

Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease.Semantic proximity Read ↗

Phylogenetic Profiling and Disordered Region Assessment of MECP2, CDKL5, and FOXG1 to Reveal Strategies for Rett Syndrome TreatmentSemantic proximity Read ↗

Unusual double mutation in MECP2 and CDKL5 genes in Rett-like syndrome: Correlation with phenotype and genes expression.Semantic proximity Read ↗

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