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Article

Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2011

Intusoma Utcharee, Hayeeduereh Fadell, Plong-On Oradawan, Sripo Thanya, Vasiknanonte Punnee, Janjindamai Supachai, Lusawat Apasri, Thammongkol Sasipa, Visudtibhan Anannit, Limprasert Pornprot

Abstract excerpt

PURPOSES: To perform CDKL5 mutation screening in Thai children with cryptogenic infantile intractable epilepsy and to determine the clinical sensitivity of CDKL5 screening when different inclusion criteria were applied. METHODS: Children with cryptogenic infantile intractable epilepsy were screened for CDKL5 mutation using multiplex ligation-dependent probe amplification and DNA sequencing. The clinical...

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Source

Identifiers

PMID: 21775177
DOI: 10.1016/j.ejpn.2011.01.005

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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Mutation screening of the CDKL5 gene in cryptogenic infantile intractable epilepsy and review of clinical sensitivity.PMID 21775177Read ↗

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