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4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome

OBJECTIVES/GOALS: Epilepsy with myoclonic-atonic seizures (EMAS) is a childhood onset epilepsy disorder characterized by seizures with sudden loss of posture, or drop seizures. Our objective was to use short-read genome sequencing in 40 EMAS trios to better understand variants contributing to the de...

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Detalles Bibliográficos
Autores principales:	Calhoun, Jeffrey Dennis, Gunti, Jonathan, Angione, Katie, Geiger, Elizabeth, Eschbach, Krista, Smith, Garnett, Joshi, Charuta, Shaikh, Tamim, Demarest, Scott, Carvill, Gemma
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Cambridge University Press 2020
Materias:	Basic Science/Methodology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8823619/ http://dx.doi.org/10.1017/cts.2020.84

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