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International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder

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 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.

Citation:
Amin S, Monaghan M, Aledo-Serrano A,……… Downs J, Pestana Knight EM, et al. International Consensus Recommendations for the Assessment and Management of Individuals With CDKL5 Deficiency Disorder. Front Neurol. 2022;13.

Keywords:
Care guideline; CDKL5 deficiency disorder; consensus methods; cyclin-dependent kinase-like 5; Delphi methods; developmental and epileptic encephalopathy

Abstract:
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 and 1:60,000 live births. Pathogenic variants in CDKL5 lead to seizures from infancy and severe neurodevelopmental delay.