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Article

Complex mosaic CDKL5 deletion with two distinct mutant alleles in a 4-year-old girl.

American journal of medical genetics. Part A - 1 Aug 2014

Boutry-Kryza Nadia, Ville Dorothée, Labalme Audrey, Calender Alain, Dupont Jean-Michel, Touraine Renaud, Edery Patrick, des Portes Vincent, Sanlaville Damien, Lesca Gaetan

Abstract excerpt

Mutations of the CDKL5 gene cause early epileptic encephalopathy. Patients manifest refractory epilepsy, beginning before the age of 3 months, which is associated with severe psychomotor delay and features that overlap with Rett syndrome. We report here a patient with mosaicism for CDKL5 exonic deletion, with the presence of two mutant alleles. The affected 4-year-old girl presented with infantile spasms,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 24715584
DOI: 10.1002/ajmg.a.36547

Genes

CDKL5

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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