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Article

WWOX-associated encephalopathies: identification of the phenotypic spectrum and the resulting genotype-phenotype correlation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Nov 2018

Serin Hepsen Mine, Simsek Erdem, Isik Esra, Gokben Sarenur

Abstract excerpt

Epileptic encephalopathies are a group of disorders in which epileptiform abnormalities cause progressive deterioration in cerebral function. Genetic causes have been described in several of the epileptic encephalopathies, and many previously unknown genes have been identified. WW domain-containing oxidoreductase (WWOX) has recently been implicated in autosomal recessive spinocerebellar ataxia type 12 (SCAR12)...

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Source

Identifiers

PMID: 30094525
DOI: 10.1007/s10072-018-3528-6

Genes

WWOX

Variants

Provenance

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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