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Article

Neonatal neuronal WWOX gene therapy rescues Wwox null phenotypes.

EMBO molecular medicine - 7 Dec 2021

Repudi Srinivasarao, Kustanovich Irina, Abu-Swai Sara, Stern Shani, Aqeilan Rami I

Abstract excerpt

WW domain-containing oxidoreductase (WWOX) is an emerging neural gene-regulating homeostasis of the central nervous system. Germline biallelic mutations in WWOX cause WWOX-related epileptic encephalopathy (WOREE) syndrome and spinocerebellar ataxia and autosomal recessive 12 (SCAR12), two devastating neurodevelopmental disorders with highly heterogenous clinical outcomes, the most common being severe epileptic...

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Identifiers

PMID: 34747138
DOI: 10.15252/emmm.202114599
PMCID: PMC8649866

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