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...
Main Authors: | Edda Haberlandt, Taras Valovka, Tanja Janjic, Thomas Müller, Georgios Blatsios, Daniela Karall, Andreas R. Janecke |
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Format: | Article |
Language: | English |
Published: |
Wiley
2021-03-01
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Series: | Molecular Genetics & Genomic Medicine |
Subjects: | |
Online Access: | https://doi.org/10.1002/mgg3.1607 |
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