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

Congenital neurological disorder and encephalopathy, motor dysfunction and movement disorder, and hypoplasia of the brain, were among the top enriched diseases and functions with a positive Z score in the range of 2.1 – 6.8 and highly significant p-values (−log10 p-values range of 3.6 – 10.9) ( Fig. 9b ).

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