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Article

CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.

Developmental medicine and child neurology - 1 Apr 2024

Kaufmann Walter E

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Topics

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Share to Epilepsy
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Share to CDKL5 gene
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Protein Serine-Threonine Kinases

Share to Rett Syndrome

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Source

Identifiers

PMID: 37881024
DOI: 10.1111/dmcn.15797

Genes

CDKL5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 21 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

CDKL5 deficiency disorder: At the intersection between Rett syndrome and developmental epileptic encephalopathies.PMID 37881024Read ↗

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

What we know and would like to know about CDKL5 and its involvement in epileptic encephalopathy.Semantic proximity Read ↗

CDKL5-Related Disorders: From Clinical Description to Molecular GeneticsSemantic proximity Read ↗

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

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

A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome.Semantic proximity Read ↗

Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies.Semantic proximity Read ↗

CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.Semantic proximity Read ↗

Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patientsSemantic proximity Read ↗

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

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

Myoclonic encephalopathy in the CDKL5 gene mutation.Semantic proximity Read ↗

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