CDKL5 deficiency disorder: clinical features, diagnosis, and management

H Leonard, J Downs, TA Benke, L Swanson… - The Lancet …, 2022 - thelancet.com
CDKL5 deficiency disorder (CDD) was first identified as a cause of human disease in 2004.
Although initially considered a variant of Rett syndrome, CDD is now recognised as an …

Epilepsy genetics and precision medicine in adults: a new landscape for developmental and epileptic encephalopathies

Á Beltrán-Corbellini, Á Aledo-Serrano… - Frontiers in …, 2022 - frontiersin.org
This review aims to provide an updated perspective of epilepsy genetics and precision
medicine in adult patients, with special focus on developmental and epileptic …

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 …

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 …

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 …

Touchscreen cognitive deficits, hyperexcitability and hyperactivity in males and females using two models of Cdkl5 deficiency

A Adhikari, FKB Buchanan, TA Fenton… - Human molecular …, 2022 - academic.oup.com
Many neurodevelopmental disorders (NDDs) are the result of mutations on the X
chromosome. One severe NDD resulting from mutations on the X chromosome is CDKL5 …

Caregiver perspective of benefits and side effects of anti-seizure medications in CDKL5 Deficiency Disorder from an International database

K Wong, M Junaid, S Alexander, HE Olson… - CNS drugs, 2024 - Springer
Background and Objective CDKL5 deficiency disorder presents as a challenging condition
with early-onset refractory seizures, severe developmental delays, and a range of other …

[HTML][HTML] Developmental and epileptic encephalopathies after negative or inconclusive genetic testing: what is next?

A Aledo-Serrano, R Sánchez-Alcudia… - Journal of …, 2021 - oaepublish.com
The redefinition of classical electroclinical syndromes and the emergence of neurogenetics
has led to a revolution in the field of developmental and epileptic encephalopathies (DEEs) …

Providing quality care for people with CDKL5 deficiency disorder: A European expert panel opinion on the patient journey

S Amin, RS Møller, A Aledo‐Serrano… - Epilepsia …, 2024 - Wiley Online Library
Abstract Cyclin‐dependent kinase‐like 5 (CDKL5) deficiency disorder (CDD) is a
developmental and epileptic encephalopathy caused by variants in the CDKL5 gene. The …

An overview of ganaxolone as a treatment for seizures associated with cyclin-dependent kinase-like 5 deficiency disorder

A Gould, S Amin - Expert Review of Neurotherapeutics, 2024 - Taylor & Francis
ABSTRACT Introduction Cyclin-dependent kinase-Like 5 (CDKL5) deficiency disorder
(CDD) is a rare neurodevelopmental condition commonly characterized by drug-resistant …