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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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| Udgivet i: | Brain Sci |
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| Main Authors: | , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
MDPI
2020
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| Fag: | |
| Online adgang: | 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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