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Article

WWOX Loss of Function in Neurodevelopmental and Neurodegenerative Disorders.

International journal of molecular sciences - 24 Nov 2020

Aldaz C Marcelo, Hussain Tabish

Abstract excerpt

The WWOX gene was initially discovered as a putative tumor suppressor. More recently, its association with multiple central nervous system (CNS) pathologies has been recognized. WWOX biallelic germline pathogenic variants have been implicated in spinocerebellar ataxia type 12 (SCAR12; MIM:614322) and in early infantile epileptic encephalopathy (EIEE28; MIM:616211). WWOX germline copy number variants have also...

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Identifiers

PMID: 33255508
DOI: 10.3390/ijms21238922
PMCID: PMC7727818

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