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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Bibliografiska uppgifter
Huvudupphovsmän: Martyna Jakimiec, Justyna Paprocka, Robert Śmigiel
Materialtyp: Artikel
Språk:English
Publicerad: MDPI AG 2020-02-01
Serie:Brain Sciences
Ämnen:
Länkar:https://www.mdpi.com/2076-3425/10/2/107