CDKL5 Deficiency Disorder Without Epilepsy
Author:
Publisher
Elsevier BV
Subject
Neurology (clinical),Developmental Neuroscience,Neurology,Pediatrics, Perinatology and Child Health
Reference15 articles.
1. CDKL5 deficiency disorder in males: five new variants and review of the literature;Siri;Eur J Paediatr Neurol,2021
2. CDKL5 deficiency disorder—a complex epileptic encephalopathy;Jakimiec;Brain Sci,2020
3. Clinical features and gene mutational spectrum of CDKL5-related diseases in a cohort of Chinese patients;Zhao;BMC Med Genet,2014
4. Cyclin-dependent kinase-like 5 deficiency disorder: clinical review;Olson;Pediatr Neurol,2019
5. Cerebral visual impairment in CDKL5 deficiency disorder: vision as an outcome measure;Olson;Dev Med Child Neurol,2021
Cited by 3 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Deletions in the CDKL5 5′ untranslated region lead to CDKL5 deficiency disorder;American Journal of Medical Genetics Part A;2024-08-28
2. CDKL5 Deficiency Disorder: Some Lessons Learned 20 Years After the First Description;American Journal on Intellectual and Developmental Disabilities;2024-02-27
3. Discovery and characterization of a specific inhibitor of serine-threonine kinase cyclin-dependent kinase-like 5 (CDKL5) demonstrates role in hippocampal CA1 physiology;eLife;2023-07-25
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