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Clinical manifestation of CDKL5 deficiency disorder and identified mutations in a cohort of Slovak patients.

Epilepsy research - 1 Oct 2021

Kluckova Daniela, Kolnikova Miriam, Medova Veronika, Bognar Csaba, Foltan Tomas, Svecova Lucia, Gnip Andrej, Kadasi Ludevit, Soltysova Andrea, Ficek Andrej

Abstract excerpt

CDKL5 deficiency disorder (CDD) is an independent clinical entity associated with early-onset encephalopathy, which is often considered the type of epileptic encephalopathy with CDKL5 mutation also found in children diagnosed with early-onset seizure (Hanefeld) type of Rett syndrome, epileptic spasms, West syndrome, Lennox-Gastaut syndrome, or autism. Since early seizure onset is a prominent feature, in this...

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PMID: 34229227
DOI: 10.1016/j.eplepsyres.2021.106699

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