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4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome by Calhoun, Jeffrey Dennis; Gunti, Jonathan; Angione, Katie; Geiger, Elizabeth; Eschbach, Krista; Smith, Garnett; Joshi, Charuta; Shaikh, Tamim; Demarest, Scott; Carvill, Gemma is a Medicine article available to read on EtoBox.

What is 4478 Not just GLUT1: genome sequencing reveals genetic heterogeneity in Doose syndrome about?

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 development of EMAS. METHODS/STUDY POPULATION: Eligibility for the cohort included a potential diagnosis of EMAS by child neurology faculty at Children’s Hospital Colorado. Exclusion criteria included lack of drop seizures upon chart review or structural abnormality on MRI. Some individuals had prior genetic testing and priority for genome sequencing was given to individuals without clear genetic diagnosis based on previous testing. We analyzed single nucleotide variants (SNVs), small insertions and deletions (INDELs), and larger structural variants (SVs) from trio genomes and determined those that were likely contributory based on standardized American College of Medical Genetics (ACMG) criteria. RESULTS/ANTICIPATED RESULTS: Our initial analysis focused on variants in coding regions of known epilepsy-associated genes. We identified pathogenic or likely pathogenic variants in 6 different i

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

Author

Calhoun, Jeffrey Dennis; Gunti, Jonathan; Angione, Katie; Geiger, Elizabeth; Eschbach, Krista; Smith, Garnett; Joshi, Charuta; Shaikh, Tamim; Demarest, Scott; Carvill, Gemma

Publisher

Cambridge University Press; Cambridge: Cambridge University Press, 2017-; Cambridge University Press (CUP) (ISSN 2059-8661)

Published

2020

Language

EN

Field

Medicine (Health Sciences)