Article
First report of Tunisian patients with CDKL5-related encephalopathy.
Epilepsia open - 1 Jun 2024
Charfi Triki Chahnez, Zouari Mallouli Salma, Ben Jdila Marwa, Ben Said Mariem, Kamoun Feki Fatma, Weckhuysen Sarah, Masmoudi Sabeur, Fakhfakh Faiza
Abstract excerpt
OBJECTIVE: Mutations in the cyclin-dependent kinase-like 5 gene (CDKL5) are associated with a wide spectrum of clinical presentations. Early-onset epileptic encephalopathy (EOEE) is the most recognized phenotype. Here we describe phenotypic features in eight Tunisian patients with CDKL5-related encephalopathy. METHODS: We included all cases with clinical features consistent with CDKL5-related encephalopathy:...
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