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Article

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder.

Neurology - 22 Nov 2016

Fehr Stephanie, Wong Kingsley, Chin Richard, Williams Simon, de Klerk Nick, Forbes David, Krishnaraj Rahul, Christodoulou John, Downs Jenny, Leonard Helen

Abstract excerpt

OBJECTIVE: To investigate seizure outcomes and their relationships to genotype and functional abilities in individuals with the cyclin-dependent kinase-like-5 (CDKL5) disorder. METHODS: Using the International CDKL5 Disorder Database, we identified 172 cases with a pathogenic CDKL5 mutation. We categorized individual mutations into 4 groups based on predicted structural and functional consequences. Negative...

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Source

Identifiers

PMID: 27770071
DOI: 10.1212/WNL.0000000000003352

Genes

CDKL5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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