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Author

D. Latner

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Sep 2026

Monoallelic variants in BRSK1 are associated with a neurodevelopmental disorder with or without epilepsy.

The data support a model that heterozygous loss of BRSK1 leads to a neurodevelopmental syndrome with variable phenotypes and indicates that the three individual-derived alleles provide only a partial rescue and fail to normalize NMJ morphology and Futsch levels, suggesting that they are partial loss-of-function alleles...

Ming-Xi Deng, Meng-Qi Ma, Vanessa A. Gomez et al. · 0 citations
Jul 2026

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

A case series of an additional 13 affected individuals with RNF13 variants (2 missense, 11 truncating) supports and broadens previous reports and helps to define a narrow but critical region of the protein that is intolerant to truncating variation, although the gene is not highly constrained.

D. Latner, S. Hiatt, C. Finnila et al. · 0 citations

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