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CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

1
Department of Paediatrics and Developmental Age Neurology, Upper Silesian Child Health Centre, 40-752 Katowice, Poland
2
Department of Paediatric Neurology, Faculty of Medical Science, Medical University of Silesia, 40-055 Katowice, Poland
3
Department of Paediatrics and Rare Disorders, Wroclaw Medical University, 50-367 Wroclaw, Poland
*
Author to whom correspondence should be addressed.
Brain Sci. 2020, 10(2), 107; https://doi.org/10.3390/brainsci10020107
Received: 26 January 2020 / Revised: 11 February 2020 / Accepted: 13 February 2020 / Published: 17 February 2020
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 first three months of life and most often do not respond to pharmacological treatment), epileptic encephalopathy secondary to seizures, and retardation of psychomotor development, which are often observed already in the first months of life. Due to the fact that CDKL5 is located on the X chromosome, the prevalence of CDD among women is four times higher than in men. However, the course is usually more severe among male patients. Recently, many clinical centers have analyzed this condition and provided knowledge on the function of CDKL5 protein, the natural history of the disease, therapeutic options, and their effectiveness and prognosis. The International CDKL5 Disorder Database was established in 2012, which focuses its activity on expanding knowledge related to this condition and disseminating such knowledge to the families of patients. View Full-Text
Keywords: CDKL5 deficiency disorder; children; epilepsy CDKL5 deficiency disorder; children; epilepsy
MDPI and ACS Style

Jakimiec, M.; Paprocka, J.; Śmigiel, R. CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy. Brain Sci. 2020, 10, 107.

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