Author

Sean D. Fraser

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Open access Sep 2026

A homozygous missense variant in NRROS gene is associated with intracranial calcifications, neurodegeneration, and severe infantile epilepsy syndrome.

Biallelic loss-of-function variants in NRROS (Negative regulator of reactive oxygen species, previously LRRC33) cause a progressive neurodegenerative disorder characterized by early-onset seizures with brain calcifications. To date, 16 affected individuals from 13 unrelated families have been reported for this conditio...

M. Ganapathi, Sean D. Fraser, Joseph Ryu et al. · HGG advances · 0 citations

Open access Jul 2026

Expanded molecular pathomechanisms of GlyR α2 subunit variants in neurodevelopmental disorders and epileptic encephalopathy

These findings expand the clinical and mechanistic spectrum of GlyR α2 variants, identify a key determinant of picrotoxin binding, and highlight unresolved roles of intracellular protein-protein interaction motifs in GlyR α2 function.

Sean D. Fraser, Anna-Lena Wiessler, W. Choi et al. · Scientific Reports · 0 citations