Not Just Loss-of-Function Variations: Identification of a Hypermorphic Variant in a Patient With a CDKL5 Missense Substitution

BACKGROUND AND OBJECTIVES: CDKL5 deficiency disorder (CDD) is a neurodevelopmental encephalopathy characterized by early-onset epilepsy and impaired psychomotor development. Variations in the X-linked CDKL5 gene coding for a kinase cause CDD. Molecular genetics has proved that almost all pathogenic...

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Detalles Bibliográficos
Autores principales: Frasca, Angelisa, Pavlidou, Efterpi, Bizzotto, Matteo, Gao, Yunan, Balestra, Dario, Pinotti, Mirko, Dahl, Hans Atli, Mazarakis, Nicholas D., Landsberger, Nicoletta, Kinali, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2022
Materias:
RESEARCH Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8906656/
https://www.ncbi.nlm.nih.gov/pubmed/35280940
http://dx.doi.org/10.1212/NXG.0000000000000666

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