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Article

Recently defined epileptic encephalopathy related to WWOX gene mutation: six patients and new mutations.

Neurological research - 1 Sept 2021

Havali Cengiz, Ekici Arzu, Dorum Sevil, Görükmez Özlem, Topak Ali

Abstract excerpt

Purpose: Pathogenic variants of the WWOX gene have been linked to sexual differentiation disorders, spinocerebellar ataxia, and epileptic encephalopathy (EE). We evaluated the clinical and molecular data from six newly diagnosed patients with WWOX-related EE.Methods: Clinical and molecular findings in six patients with EE were investigated, and biallelic pathogenic variants in the WWOX gene were identified....

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Identifiers

PMID: 34034642
DOI: 10.1080/01616412.2021.1932173

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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