Biallelic Truncating Variants in SCN3B Encoding Nav Channel Subunit β3 Lead to Neurodevelopmental Phenotype with and without Epilepsy and Ataxia
Sign Up to like & getrecommendations! Published in 2025 at "Annals of Neurology"
DOI: 10.1002/ana.78014
Abstract: SCN3B encodes the β3 auxiliary subunit, essential for voltage‐gated Na+ (Nav) channel trafficking and gating. Although SCN3B has been associated with cardiac disorders, a link with neurodevelopmental disorders (NDD) has not been established. Using a… read more here.
Keywords: ataxia; biallelic truncating; truncating variants; scn3b encoding ... See more keywords
Novel NALCN biallelic truncating mutations in siblings with IHPRF1 syndrome
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DOI: 10.1111/cge.13162
Abstract: Infantile hypotonia with psychomotor retardation and characteristic facies-1 (IHPRF1) is a severe autosomal recessive neurologic disorder with onset at birth or in early infancy. It is caused by mutations in the NALCN gene that encodes… read more here.
Keywords: novel nalcn; ihprf1 syndrome; biallelic truncating; mutations nalcn ... See more keywords