Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

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

Seizure - 1 Apr 2026

Luo Jihang, Wang Ting, Yan Huifang, Zhang Yu, Wang Junyu, Ouyang Shijia, Yang Shiqi, Jiao Aoran, Zhang Yuehua, Wang Jingmin

Abstract excerpt

OBJECTIVE: To characterize the clinical phenotypes and genotype-phenotype correlations of neurodevelopmental disorders caused by pathogenic variants in β-spectrin family genes (SPTBN1, SPTBN2, SPTBN4, and SPTBN5) through systematic analysis of novel cases and comprehensive literature review. METHODS: Through retrospective analysis at Children's Medical Centre of Peking University First Hospital (February 2017 to...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Epilepsy

Share to Genetic Association Studies

Share to Infant

Share to Neurodevelopmental Disorders

Share to Spectrin

Source

Identifiers

PMID: 41819009
DOI: 10.1016/j.seizure.2026.02.018

Genes

SPTBN5
SPTBN2
SPTBN1
SPTBN4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 20 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical characterization of SPTBN1, SPTBN2, and SPTBN5 variants: A case series and systematic review.PMID 41819009Read ↗

Heterozygous variants in SPTBN1 cause intellectual disability and autism.Semantic proximity Read ↗

Pathogenic SPTBN1 variants cause an autosomal dominant neurodevelopmental syndrome.Semantic proximity Read ↗

Novel bi-allelic variants expand the SPTBN4-related genetic and phenotypic spectrum.Semantic proximity Read ↗

Pathogenic <i>SPTBN1</i> variants cause a novel autosomal dominant neurodevelopmental syndromeSemantic proximity Read ↗

Expanding the β-III Spectrin-Associated Phenotypes toward Non-Progressive Congenital Ataxias with Neurodegeneration.Semantic proximity Read ↗

A Novel Homozygous Mutation in SPTBN2 Leads to Spinocerebellar Ataxia in a Consanguineous Family: Report of a New Infantile-Onset Case and Brief Review of the Literature.Semantic proximity Read ↗

Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.Semantic proximity Read ↗

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development.Semantic proximity Read ↗

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

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

Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain.Semantic proximity Read ↗

Delineating SPTAN1 associated phenotypes: from isolated epilepsy to encephalopathy with progressive brain atrophy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.