Bi-allelic variants in SNF8 cause a disease spectrum ranging from severe developmental and epileptic encephalopathy to syndromic optic atrophy.

Am J Hum Genet · 2024 · PMC10940020 · PMID 38423010

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did not reach statistical significanceno p-value reported

In contrast, a reduction of SNF8 levels that however did not reach statistical significance was observed in fibroblasts from individuals D1 and E1 (milder phenotype) (D1: SNF8: fc = 0.74, E1: SNF8: fc = 0.68) ( Figures 4 B and 4C).

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