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

2019159 citationsJournal Articlebronze Open Access

Authors

Scott Demarest · Colorado School of Public Health

Heather E. Olson · Boston Children's Hospital

Angela Moss · Outcomes Research Consortium

Elia Pestana‐Knight · Cleveland Clinic

Xiaoming Zhang · Cleveland Clinic

Sumit Parikh · Cleveland Clinic Lerner College of Medicine

Lindsay C. Swanson

Abstract

The most common seizure types in CDD are epileptic spasms (often without hypsarrhythmia) and tonic seizures that may cluster together. CVI is a common feature in CDD and is correlated with achieving fewer milestones.

Topics & Keywords

Genetics and Neurodevelopmental Disorders Genomic variations and chromosomal abnormalities Genomics and Rare Diseases

Publication Details

Published in: Epilepsia

Volume 60, Issue 8, pp. 1733-1742

DOI: 10.1111/epi.16285

Field-Weighted Citation Impact: 13.61

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

Authors

Abstract

Topics & Keywords

Publication Details