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The clinical and genetic landscape of developmental and epileptic encephalopathies in Egyptian children.

Clinical genetics - 1 May 2024

Elkhateeb Nour, Issa Mahmoud Y, Elbendary Hasnaa M, Elnaggar Walaa, Ramadan Areef, Rafat Karima, Kamel Mona, Abdel-Ghafar Sherif F, Amer Fawzia, Hassaan Hebatallah M, Trunzo Roberta, Pereira Catarina, Abdel-Hamid Mohamed S, D'Arco Felice, Bauer Peter, Bertoli-Avella Aida M, Girgis Marian, Gleeson Joseph G, Zaki Maha S, Selim Laila

Abstract excerpt

Developmental and epileptic encephalopathies (DEEs) are a heterogeneous group of epilepsies characterized by early-onset, refractory seizures associated with developmental regression or impairment, with a heterogeneous genetic landscape including genes implicated in various pathways and mechanisms. We retrospectively studied the clinical and genetic data of patients with genetic DEE who presented at two tertiary...

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PMID: 38221827
DOI: 10.1111/cge.14481

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