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...
Huvudupphovsmän: | , , |
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Materialtyp: | Artikel |
Språk: | English |
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MDPI AG
2020-02-01
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Serie: | Brain Sciences |
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Länkar: | https://www.mdpi.com/2076-3425/10/2/107 |