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Article

Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.

Arquivos de neuro-psiquiatria - 1 Jun 2013

Ermel Erica Leitão, Carneiro Lauriane Caroline, Souza Carolina Fischinger Moura de, Crippa Ana Chrystina de Souza, Sanseverino Maria Teresa Vieira, Raskin Salmo

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Brazil
CDKL5 gene
Infant
Mutation
Phenotype
Protein Serine-Threonine Kinases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Spasms, Infantile

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Identifiers

PMID: 23828526
DOI: 10.1590/0004-282X20130050

Genes

CDKL5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Epileptic encephalopathy and atypical Rett syndrome with mutations in CDKL5: clinical and molecular characterization of two Brazilian patients.PMID 23828526Read ↗

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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 ↗

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

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