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Article

Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder.

Neurogenetics - 1 Oct 2009

Erez Ayelet, Patel Amina J, Wang Xueqing, Xia Zhilian, Bhatt Samarth S, Craigen William, Cheung Sau Wai, Lewis Richard A, Fang Ping, Davenport Sandra L H, Stankiewicz Pawel, Lalani Seema R

Abstract excerpt

Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene in Xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a Rett syndrome (RTT)-like phenotype. Using array comparative genomic hybridization, we identified variable-sized microdeletions involving exons 1-4 of the CDKL5 gene in three females with early-onset seizures. Two of these deletions were flanked by Alu...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19471977
DOI: 10.1007/s10048-009-0195-z

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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