CDKL5 deficiency disorder: clinical features, diagnosis, and management-Reference-Cited by-同舟云学术

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CDKL5 deficiency disorder: clinical features, diagnosis, and management

Published:2022-06 Issue:6 Volume:21 Page:563-576
ISSN:1474-4422
Container-title:The Lancet Neurology
language:en
Short-container-title:The Lancet Neurology

Author:

Leonard Helen,Downs Jenny,Benke Tim A,Swanson Lindsay,Olson Heather,Demarest Scott

Funder

National Institute of Neurological Disorders and Stroke

HHT Foundation International

Children's Hospital Foundation

National Health and Medical Research Council

National Institutes of Health

Publisher

Elsevier BV

Subject

Neurology (clinical)

Reference99 articles.

1. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation;Tao;Am J Hum Genet,2004

2. Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation;Weaving;Am J Hum Genet,2004

3. Open-label use of highly purified CBD (Epidiolex) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes;Devinsky;Epilepsy Behav,2018

4. The clinical pattern of the Rett syndrome;Hanefeld;Brain Dev,1985

5. Rett syndrome: revised diagnostic criteria and nomenclature;Neul;Ann Neurol,2010

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1. A review of CDKL: An underestimated protein kinase family;International Journal of Biological Macromolecules;2024-10

2. Bipolar Disorder in a female with CDKL5 Deficiency Disorder: A Case Report;2024-09-10

3. The long odyssey for the DEE‐CDKL5 diagnosis: A call for action;Epilepsia Open;2024-09-09

4. Autistic‐relevant behavioral phenotypes of a mouse model of cyclin‐dependent kinase‐like 5 deficiency disorder;Autism Research;2024-09-05

5. CDKL5’s role in microtubule-based transport and cognitive function;2024-08-29

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