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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...

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Adolescent
Child
Child, Preschool
Epilepsy
Genetic Association Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Neurodevelopmental Disorders

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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 1 Sept 2026.

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