[HTML][HTML] International consensus recommendations for the assessment and management of individuals with CDKL5 deficiency disorder
S Amin, M Monaghan, A Aledo-Serrano… - Frontiers in …, 2022 - frontiersin.org
CDKL5 Deficiency Disorder (CDD) is a rare, X-linked dominant condition that causes a
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
developmental and epileptic encephalopathy (DEE). The incidence is between~ 1: 40,000 …
Severity assessment in CDKL5 deficiency disorder
S Demarest, EM Pestana-Knight, HE Olson, J Downs… - Pediatric …, 2019 - Elsevier
Background Pathologic mutations in cyclin-dependent kinase-like 5 cause CDKL5
deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive …
deficiency disorder, a genetic syndrome associated with severe epilepsy and cognitive …
[HTML][HTML] Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
HE Olson, CI Daniels, I Haviland, LC Swanson… - Journal of …, 2021 - Springer
Background CDKL5 deficiency disorder (CDD) is associated with refractory infantile onset
epilepsy, global developmental delay, and variable features that include sleep, behavioral …
epilepsy, global developmental delay, and variable features that include sleep, behavioral …
Exploring quality of life in individuals with a severe developmental and epileptic encephalopathy, CDKL5 Deficiency Disorder
Abstract Background CDKL5 Deficiency Disorder (CDD) is a rare genetic disorder caused
by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to …
by a mutation in the cyclin-dependent kinase-like 5 (CDKL5) gene. It is now considered to …
Content validation of clinician-reported items for a severity measure for CDKL5 deficiency disorder
J Saldaris, J Weisenberg… - Journal of child …, 2021 - journals.sagepub.com
CDKL5 deficiency disorder (CDD) results in early-onset seizures and severe developmental
impairments. A CDD clinical severity assessment (CCSA) was previously developed with …
impairments. A CDD clinical severity assessment (CCSA) was previously developed with …
[HTML][HTML] CDKL5 deficiency disorder—a complex epileptic encephalopathy
M Jakimiec, J Paprocka, R Śmigiel - Brain sciences, 2020 - mdpi.com
CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the
presence of non-functional CDKL5 protein, ie, serine-threonine kinase (previously referred …
presence of non-functional CDKL5 protein, ie, serine-threonine kinase (previously referred …
CDKL5 deficiency disorder-related epilepsy: a review of current and emerging treatment
W Hong, I Haviland, E Pestana-Knight, JL Weisenberg… - CNS drugs, 2022 - Springer
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals …
developmental and epileptic encephalopathy with infantile-onset epilepsy. Most individuals …
Cyclin-dependent kinase-like 5 deficiency disorder: clinical review
HE Olson, ST Demarest, EM Pestana-Knight… - Pediatric …, 2019 - Elsevier
Abstract Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) is a
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …
developmental encephalopathy caused by pathogenic variants in the gene CDKL5. This …
CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development
ST Demarest, HE Olson, A Moss, E Pestana‐Knight… - …, 2019 - Wiley Online Library
Objective The cyclin‐dependent kinase like 5 (CDKL5) gene is a known cause of early onset
developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder …
developmental and epileptic encephalopathy, also known as CDKL5 deficiency disorder …
CDKL5 deficiency disorder: molecular insights and mechanisms of pathogenicity to fast-track therapeutic development
NJ Van Bergen, S Massey, A Quigley… - Biochemical Society …, 2022 - portlandpress.com
CDKL5 deficiency disorder (CDD) is an X-linked brain disorder of young children and is
caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene …
caused by pathogenic variants in the cyclin-dependent kinase-like 5 (CDKL5) gene …