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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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Detalhes bibliográficos
Publicado no:Brain Sci
Main Authors: Jakimiec, Martyna, Paprocka, Justyna, Śmigiel, Robert
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2020
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7071516/
https://ncbi.nlm.nih.gov/pubmed/32079229
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/brainsci10020107
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