Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

Caregivers’ Perceptions of Clinical Symptoms, Disease Management, and Quality of Life Impact in Cases of Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Cross-Sectional Online Survey

BackgroundCyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is an ultrarare genetic condition causing developmental epileptic encephalopathy characterized by seizures and motor and intellectual disabilities. No disease-modifying therapies are available, and tre...

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Main Authors: Sam Amin, Carol-Anne Partridge, Helen Leonard, Jenny Downs, Helen Allvin, Valentine Ficara, Emilie Pain, Minna A Korolainen
Format: Article
Language:English
Published: JMIR Publications 2025-06-01
Series:JMIR Formative Research
Online Access:https://formative.jmir.org/2025/1/e72489
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