Article

Variants inBSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

2025-02-12

Abstract excerpt

Disease-causing variants in synaptic function genes are a common cause of neurodevelopmental disorders and epilepsy. Here, we describe 14 individuals with de novo disruptive variants in BSN , which encodes the presynaptic protein Bassoon. To expand the phenotypic spectrum, we identified 15 additional individuals with protein-truncating variants (PTVs) from large biobanks. Clinical features were standardized using...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: bc9a0c7d-3f4b-525f-adc4-e0d3facc4799
DOI: 10.1101/2025.02.10.25321755

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Variants inBSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeDOI 10.1101/2025.02.10.25321755Read

Variants in BSN, encoding the presynaptic protein Bassoon, result in a distinct neurodevelopmental disorder with a broad phenotypic range.Semantic proximity Read

Rare predicted loss of function alleles in Bassoon (BSN) are associated with obesitySemantic proximity Read

Predicted loss of function alleles in Bassoon (BSN) are associated with obesitySemantic proximity Read

Variants in BSN gene associated with epilepsy with favourable outcome.Semantic proximity Read

Rare genetic brain disorders with overlapping neurological and psychiatric phenotypes.Semantic proximity Read

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.Semantic proximity Read

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.Semantic proximity Read

MDGA2 homozygous loss-of-function variants cause developmental and epileptic encephalopathySemantic proximity Read

PsyMuKB: An Integrative De Novo Variant Knowledge Base for Developmental Disorders.Semantic proximity Read

Genetics and Genomics of Pediatric Neurological Disorders: An Overview of Current Insights and Future Directions.Semantic proximity Read

Molecular Characterization and Genotype-phenotype Correlations of SYNGAP1 Variants in a Polish Pediatric Cohort With Neurodevelopmental DisordersSemantic proximity Read

Variants in<i>BSN</i>, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic range

Abstract excerpt

Topics

Identifiers and source

Related research