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A Novel Intronic Variant in SLC2A1 Gene in a Saudi Patient with Myoclonic Epilepsy

Cerebral metabolism is primarily dependent on glucose for which a facilitated diffusion by glucose transporter protein 1 (GLUT1) across the blood-brain barrier is crucial. This GLUT1 is encoded by the SLC2A1 gene. Mutations in SLC2A1 will lead to a variety of symptoms known as GLUT1 deficiency syndr...

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Detalles Bibliográficos
Autores principales:	Algahtani, Hussein, Shirah, Bader, Albarakaty, Ahmad, Al-Qahtani, Mohammad H., Abdulkareem, Angham Abdulrahman, Naseer, Muhammad Imran
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Korean Epilepsy Society 2020
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7494885/ https://www.ncbi.nlm.nih.gov/pubmed/32983954 http://dx.doi.org/10.14581/jer.20007

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