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CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

16 Jul 2019

Abstract excerpt

OBJECTIVE: The cyclin-dependent kinase like 5 (CDKL5) gene is a known cause of early onset developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder (CDD). We sought to (1) provide a description of seizure types in patients with CDD, (2) provide an assessment of the frequency of seizure-free periods and cortical visual impairment (CVI), (3) correlate these features with genotype and...

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Epilepsy research and treatment
Genetics and Neurodevelopmental Disorders
Genomic variations and chromosomal abnormalities

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31313283
DOI: 10.1111/epi.16285

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