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Article

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females

4 Feb 2011

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 21293276
DOI: 10.1097/gim.0b013e31820605f5

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Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two femalesPMID 21293276Read ↗

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.Semantic proximity Read ↗

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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 ↗

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

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

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

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence.Semantic proximity Read ↗

Novel CDKL5 mutations were found in patients in China: retrospective investigation in cases of CDKL5-related disorders.Semantic proximity Read ↗

Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature.Semantic proximity Read ↗

CDKL5 and ARX mutations in males with early-onset epilepsy.Semantic proximity Read ↗

Wide range of phenotypic severity in individuals with late truncations unique to the predominant CDKL5 transcript in the brain.Semantic proximity Read ↗

Historic, clinical, and prognostic features of epileptic encephalopathies caused by CDKL5 mutations.Semantic proximity Read ↗

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