Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Characteristic facial features and cortical blindness distinguish the DOCK7‐related epileptic encephalopathy

Abstract Background The epileptic encephalopathies display extensive locus and allelic heterogeneity. Biallelic truncating DOCK7 variants were recently reported in five children with early‐onset epilepsy, intellectual disability, and cortical blindness, indicating that DOCK7 deficiency causes a spec...

Full description

Bibliographic Details
Main Authors: Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke
Format: Article
Language:English
Published: Wiley 2021-03-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
cortical blindness
DOCK7
epileptic encephalopathy
nonsense‐mediated RNA decay
recognizable syndrome
Online Access:https://doi.org/10.1002/mgg3.1607

Internet

https://doi.org/10.1002/mgg3.1607

Similar Items