CDKL5 Deficiency Disorder Without Epilepsy

Cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD) has epilepsy as a cardinal feature. Here we report two new female patients and review six previously published patients, one male and five females, with features of CDD but who never developed epilepsy. In contrast with the classical a...

Ausführliche Beschreibung

Bibliographische Detailangaben

Veröffentlicht in:	Pediatric neurology 2023-07, Vol.144, p.84-89
Hauptverfasser:	Aznar-Laín, Gemma, Fernández-Mayoralas, Daniel M., Caicoya, Anne G., Rocamora, Rodrigo, Pérez-Jurado, Luis A.
Format:	Artikel
Sprache:	eng
Schlagworte:	Autism Autism Spectrum Disorder - complications Cyclin-dependent-kinase-like-5 Epilepsy - genetics Epilepsy-free Epileptic Syndromes - complications Epileptic Syndromes - genetics Female Humans Male Protein Serine-Threonine Kinases Spasms, Infantile - complications Spasms, Infantile - genetics Video-electroencephalography
Online-Zugang:	Volltext
Tags:	Tag hinzufügen Keine Tags, Fügen Sie den ersten Tag hinzu!