Gene Information
syntaxin binding protein 1 [Source:HGNC Symbol;Acc:HGNC:11444]
STXBP1 variants are associated with 2 diseases including developmental and epileptic encephalopathy, 4 and 9q33.3q34.11 microdeletion syndrome, with 25 documented clinical phenotypes.
The STXBP1 gene is associated with 2 medical conditions, including:
Research has identified 25 phenotypic features associated with STXBP1 variants:
Severe global developmental delay
HP:0011344
Infantile onset
HP:0003593
EEG with burst suppression
HP:0010851
Impaired horizontal smooth pursuit
HP:0001151
Infantile encephalopathy
HP:0007105
Delayed CNS myelination
HP:0002188
Generalized myoclonic seizure
HP:0002123
Tremor
HP:0001337
Absent speech
HP:0001344
Autosomal dominant inheritance
HP:0000006
Hypoplasia of the corpus callosum
HP:0002079
Epileptic encephalopathy
HP:0200134
Bilateral tonic-clonic seizure
HP:0002069
Spastic paraplegia
HP:0001258
Cerebral hypomyelination
HP:0006808
ClinVar contains 10 variants associated with STXBP1. Below are some notable variants:
NM_001032221.6(STXBP1):c.963G>T (p.Lys321Asn)
PathogenicVCV004528294
Review: criteria provided, single submitter
NM_001032221.6(STXBP1):c.1493A>G (p.His498Arg)
Uncertain significanceVCV004527857
Review: criteria provided, single submitter
NM_001032221.6(STXBP1):c.890C>T (p.Ala297Val)
Likely pathogenicVCV004527033
Review: criteria provided, single submitter
NM_001032221.6(STXBP1):c.1630G>A (p.Gly544Ser)
Likely pathogenicVCV004294530
Review: criteria provided, single submitter
NM_001032221.6(STXBP1):c.1420C>T (p.Gln474Ter)
PathogenicVCV004292841
Review: criteria provided, single submitter
There are 228 publications about STXBP1 indexed in PubMed. Below are some recent papers:
Construction of a diagnostic model for temporal lobe epilepsy using interpretable deep learning: disease-associated markers identification.
Wang T, Wang A, Zhu M
PMID: 41244607
•
2025
•
Front Artif Intell
Syntaxin 3B Mediates Light-Dependent Interactions with STXBP1 and Arrestin 4: Distinct Roles in Rods and Cones.
Tebbe L, Ikelle L, Makia MS
PMID: 41220299
•
2025 Nov 12
•
Adv Sci (Weinh)
Genetic Etiology of Developmental and Epileptic Encephalopathy in a Turkish Cohort: A Single-Center Study with Targeted Gene Panel and Whole Exome Sequencing.
Sunnetci-Akkoyunlu D, Kara B, Ozer T
PMID: 41153369
•
2025 Sep 28
•
Genes (Basel)
Unveiling the impact of interferon genes on the immune microenvironment of triple-negative breast cancer: identification of therapeutic targets.
Liu Y, Cai J, Fahira A
PMID: 41132901
•
2025
•
Front Bioinform
The spectrum of communication abilities in children with 12 rare neurodevelopmental disorders: a qualitative study with caregivers.
Zigler CK, McFatrich M, Lucas N
PMID: 41114730
•
2025 Oct 20
•
J Child Psychol Psychiatry
Get instant, comprehensive insights on STXBP1 variants with Perception.
Trusted Data Sources
Last updated: 11/20/2025