First report of Tunisian patients with CDKL5‐related encephalopathy di Chahnez Charfi Triki, Salma Zouari Mallouli, Marwa Ben Jdila, Mariem Ben Said, Fatma Kamoun Feki, Sarah Weckhuysen, Sabeur Masmoudi, Faiza Fakhfakh

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Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region di Ikhlas Ben Ayed, Ikhlas Ben Ayed, Olfa Jallouli, Olfa Jallouli, Yoshiko Murakami, Amal Souissi, Salma Mallouli, Salma Mallouli, Amal Bouzid, Fatma Kamoun, Fatma Kamoun, Ines Elloumi, Fakher Frikha, Abdelaziz Tlili, Abdelaziz Tlili, Sarah Weckhuysen, Taroh Kinoshita, Taroh Kinoshita, Chahnez Charfi Triki, Chahnez Charfi Triki, Saber Masmoudi

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Case report: Compound heterozygous variants detected by next-generation sequencing in a Tunisian child with ataxia-telangiectasia di Nihel Ammous-Boukhris, Rania Abdelmaksoud-Dammak, Dorra Ben Ayed-Guerfali, Souhir Guidara, Olfa Jallouli, Hassen Kamoun, Chahnez Charfi Triki, Raja Mokdad-Gargouri

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Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy di Mariem Ben Said, Olfa Jallouli, Abir Ben Aissa, Amal Souissi, Fatma Kamoun, Faiza Fakhfakh, Saber Masmoudi, Ikhlas Ben Ayed, Chahnez Charfi Triki

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