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Article

Exploring genotype-phenotype relationships in the CDKL5 deficiency disorder using an international dataset.

Clinical genetics - 1 Jan 2021

MacKay Conor I, Wong Kingsley, Demarest Scott T, Benke Tim A, Downs Jenny, Leonard Helen

Abstract excerpt

Characterized by early-onset seizures, global developmental delay and severe motor deficits, CDKL5 deficiency disorder is caused by pathogenic variants in the cyclin-dependent kinase-like 5 gene. Previous efforts to investigate genotype-phenotype relationships have been limited due to small numbers of recurrent mutations and small cohort sizes. Using data from the International CDKL5 Disorder Database we examined...

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Identifiers

PMID: 33047306
DOI: 10.1111/cge.13862

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