CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

CDKL5 deficiency disorder (CDD) is a complex of clinical symptoms resulting from the presence of non-functional CDKL5 protein, i.e., serine-threonine kinase (previously referred to as STK9), or its complete absence. The clinical picture is characterized by epileptic seizures (that start within the f...

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Detalles Bibliográficos
Autores principales: Jakimiec, Martyna, Paprocka, Justyna, Śmigiel, Robert
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Opinion
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071516/
https://www.ncbi.nlm.nih.gov/pubmed/32079229
http://dx.doi.org/10.3390/brainsci10020107

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7071516/
https://www.ncbi.nlm.nih.gov/pubmed/32079229
http://dx.doi.org/10.3390/brainsci10020107

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