First report of Tunisian patients with CDKL5‐related encephalopathy

Abstract 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‐rela...

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發表在:	Epilepsia Open
Main Authors:	Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh
格式:	Article
語言:	英语
出版:	Wiley 2024-06-01
主題:	CDKL5 mutation clinical features developmental and epileptic encephalopathy epileptic spasm
在線閱讀:	https://doi.org/10.1002/epi4.12824