Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review.

Chouery, Eliane; Mehawej, Cybel; Sabbagh, Sandra; Bleik, Jamal; Megarbane, Andre

Chouery, Eliane; Mehawej, Cybel; Sabbagh, Sandra; Bleik, Jamal; Megarbane, Andre.

Afiliación

Chouery E; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Mehawej C; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.
Sabbagh S; Department of Pediatrics, Hôtel Dieu de France Hospital, Beirut, Lebanon.
Bleik J; Department of Ophthalmology, Lebanese American University Medical Center, Beirut, Lebanon.
Megarbane A; Department of Human Genetics, Gilbert and Rose-Marie Chagoury School of Medicine, Lebanese American University, Byblos, Lebanon.

Eur J Neurol ; 29(8): 2486-2492, 2022 08.

Article en En | MEDLINE | ID: mdl-35638367

Asunto(s)

Epilepsia; Espasmos Infantiles; Electroencefalografía; Epilepsia/genética; Femenino; Homocigoto; Humanos; Lactante; Mutación/genética; Espasmos Infantiles/genética

Palabras clave

NECAP1; early infantile epileptic encephalopathy; syndromic epilepsy; whole exome sequencing

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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Espasmos Infantiles / Epilepsia Límite: Female / Humans / Infant Idioma: En Revista: Eur J Neurol Asunto de la revista: NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Líbano

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