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Article

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

Molecular genetics & genomic medicine - 1 Mar 2021

Haberlandt Edda, Valovka Taras, Janjic Tanja, Müller Thomas, Blatsios Georgios, Karall Daniela, Janecke Andreas R

Abstract excerpt

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 specific type of epileptic encephalopathy. METHODS: We identified 23- and 27-year-old siblings with the clinical pattern...

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Identifiers

PMID: 33471954
DOI: 10.1002/mgg3.1607
PMCID: PMC8104163

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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