Recent advances in epilepsy genomics and genetic testing

Malavika Hebbar; Heather C Mefford

doi:https://doi.org/10.12688/f1000research.21366.1

doi.org/10.12688/f1000research.21366.1

Recent advances in epilepsy genomics and genetic testing

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Volume: 9, Pages: 185 - 185

Published: Mar 12, 2020

Abstract

Developmental and epileptic encephalopathies (DEEs) are a group of severe, early onset epilepsies characterized by refractory seizures, developmental delay or regression associated with ongoing epileptic activity, and generally poor prognosis. DEE is genetically and phenotypically heterogeneous, and there is a plethora of genetic testing options to investigate the rapidly growing list of epilepsy genes. However, more than 50% of patients...

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Paper Details

Title

Recent advances in epilepsy genomics and genetic testing

DOI

doi.org/10.12688/f1000research.21366.1

Published Date

Mar 12, 2020

Journal

F1000Research

Volume

9

Pages

185 - 185

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