Article

WWOX P47T loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12

2022-10-07

Abstract excerpt

<h4>ABSTRACT</h4> WWOX gene loss-of-function (LoF) has been associated with neuropathologies resulting in developmental, epileptic, and ataxic phenotypes of varying severity based on the level of WWOX dysfunction. WWOX gene biallelic germline variant p.Pro47Thr (P47T) has been causally associated with a new form of autosomal recessive cerebellar ataxia with epilepsy and intellectual disability (SCAR12). This mut...

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Literature Corpus work: f19e3ea7-4239-5852-86f3-ee2e7129df08
DOI: 10.1101/2022.10.05.510979

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