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Article

CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.

Journal of medical genetics - 1 Sept 2006

Archer H L, Evans J, Edwards S, Colley J, Newbury-Ecob R, O'Callaghan F, Huyton M, O'Regan M, Tolmie J, Sampson J, Clarke A, Osborne J

Abstract excerpt

OBJECTIVE: To determine the frequency of mutations in CDKL5 in both male and female patients with infantile spasms or early onset epilepsy of unknown cause, and to consider whether the breadth of the reported phenotype would be extended by studying a different patient group. METHODS: Two groups o...

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Source

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Identifiers

PMID: 16611748
DOI: 10.1136/jmg.2006.041467
PMCID: PMC2564572

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16611748-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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CDKL5 mutations cause infantile spasms, early onset seizures, and severe mental retardation in female patients.PMID 16611748Read ↗

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