Molecular diagnosis of epileptic encephalopathy of the first year of life applying a customized gene panel in a group of Argentinean patients.

Epilepsy & Behavior(2020)

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摘要
•A targeted NGS panel was designed to analyse a group of 17 Argentinean patients with EEs of the first year of life•A genetic diagnosis was identified in ∼50% of the patients, 87% of them presenting with a non-previously reported variant.•Molecular diagnosis in EE Latin American patients is relevant to increase our knowledge about our own mutational spectrum.•NGS diagnosis will be available for the patients with epilepsy attending a public tertiary paediatric hospital.
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关键词
Epileptic encephalopathies,NGS panel,Dravet syndrome,Molecular diagnosis,Novel genes variations,Glut-1 deficiency
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