Defining and expanding the phenotype of <i>QARS</i> -associated developmental epileptic encephalopathy

201913 citationsJournal Articlegold Open Access

Authors

Katrine M. Johannesen · University of Southern Denmark

Diana Mitter · University of Southern Denmark

Robert Janowski · University of Southern Denmark

Christian Roth · University of Southern Denmark

Joseph Toulouse · University of Southern Denmark

Anne‐Lise Poulat · University of Southern Denmark

Dorothée Ville

Abstract

These data revealed first genotype-phenotype associations and may serve for improved interpretation of new <i>QARS</i> variants and well-founded genetic counseling.

Topics & Keywords

RNA regulation and disease Genetics and Neurodevelopmental Disorders Epilepsy research and treatment

Publication Details

Published in: Neurology Genetics

Volume 5, Issue 6, pp. e373-e373

DOI: 10.1212/nxg.0000000000000373

Field-Weighted Citation Impact: 0.26

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Defining and expanding the phenotype of <i>QARS</i> -associated developmental epileptic encephalopathy

Authors

Abstract

Topics & Keywords

Publication Details