Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials-Reference-Cited by-同舟云学术

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Psychometric properties of QI-Disability in CDKL5 Deficiency Disorder: Establishing readiness for clinical trials

Published:2023-02 Issue: Volume:139 Page:109069
ISSN:1525-5050
Container-title:Epilepsy & Behavior
language:en
Short-container-title:Epilepsy & Behavior

Author:

Saldaris Jacinta M.,Jacoby Peter,Leonard Helen,Benke Tim A.,Demarest Scott,Marsh Eric D.,Downs Jenny

Funder

National Institutes of Health

HCA International Foundation

International Foundation for CDKL5 Research

Publisher

Elsevier BV

Subject

Behavioral Neuroscience,Neurology (clinical),Neurology

Reference33 articles.

1. Functional abilities in children and adults with the CDKL5 disorder;Fehr;Am J Med Genet A,2016

2. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome;Mangatt;Orphanet J Rare Dis,2016

3. CDKL5 deficiency disorder: clinical features, diagnosis, and management;Leonard;Lancet Neurol,2022

4. CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder;Trazzi;Hum Mol Genet,2018

5. Gene replacement ameliorates deficits in mouse and human models of cyclin-dependent kinase-like 5 disorder;Gao;Brain,2020

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1. Italian Version of QI-Disability for QoL Evaluation in Children and Adolescents with Intellectual Disability: Translation and Cross-Cultural Adaptation Process;Developmental Neurorehabilitation;2024-09-08

2. Beyond the Diagnosis: Evaluation of Quality-of-Life Measures and Family Functioning in SLC6A1-Related Neurodevelopmental Disorder;Pediatric Neurology;2024-06

3. What does better look like in individuals with severe neurodevelopmental impairments? A qualitative descriptive study on SCN2A-related developmental and epileptic encephalopathy;Quality of Life Research;2023-12-08

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