Ontology highlight
ABSTRACT:
SUBMITTER: Alfaiz AA
PROVIDER: S-EPMC5070883 | biostudies-literature | 2016 Jul
REPOSITORIES: biostudies-literature
Alfaiz Ali Abdullah AA Müller Verena V Boutry-Kryza Nadia N Ville Dorothée D Guex Nicolas N de Bellescize Julitta J Rivier Clotilde C Labalme Audrey A des Portes Vincent V Edery Patrick P Till Marianne M Xenarios Ioannis I Sanlaville Damien D Herrmann Johannes M JM Lesca Gaétan G Reymond Alexandre A
European journal of human genetics : EJHG 20151021 7
West syndrome (WS), defined by the triad of infantile spasms, pathognomonic hypsarrhythmia and developmental regression, is a rare epileptic disease affecting about 1:3500 live births. To get better insights on the genetic of this pathology, we exome-sequenced the members of a consanguineous family affected with isolated WS. We identified a homozygous variant (c.1825G>T/p.(Ala609Ser)) in the GUF1 gene in the three affected siblings. GUF1 encodes a protein essential in conditions that counteract ...[more]