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Article

Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.

Neurology - 7 Jul 2009

Fichou Y, Bieth E, Bahi-Buisson N, Nectoux J, Girard B, Chelly J, Chaix Y, Bienvenu T

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19564592
DOI: 10.1212/01.wnl.0000349658.05677.d7

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

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Research trail→

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Re: CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.PMID 19564592Read ↗

CDKL5 mutations in boys with severe encephalopathy and early-onset intractable epilepsy.Semantic proximity Read ↗

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature.Semantic proximity Read ↗

Key clinical features to identify girls with CDKL5 mutations.Semantic proximity Read ↗

Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy.Semantic proximity Read ↗

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two femalesSemantic proximity Read ↗

Optimizing the molecular diagnosis of CDKL5 gene-related epileptic encephalopathy in boys.Semantic proximity Read ↗

CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.Semantic proximity Read ↗

Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.Semantic proximity Read ↗

First report of Tunisian patients with CDKL5-related encephalopathy.Semantic proximity Read ↗

Clinical and functional study of two de novo variations of CDKL5 gene.Semantic proximity Read ↗

CDKL5 variant in a boy with infantile epileptic encephalopathy: case report.Semantic proximity Read ↗

CDKL5 deficiency disorder in males: Five new variants and review of the literature.Semantic proximity Read ↗

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