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

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.

BMC medical genomics - 7 Mar 2023

Kessi Miriam, Chen Baiyu, Shan Li-Dan, Wang Ying, Yang Lifen, Yin Fei, He Fang, Peng Jing, Wang Guoli

Abstract excerpt

BACKGROUND: We aimed to analyze the genotype-phenotype correlations of STXBP1 pathogenic variants, prognostic factors and the treatment choices in a case-series of STXBP1-related disorders from China. METHODS: The clinical data and genetic results of the children diagnosed with STXBP1-related disorders at Xiangya hospital from 2011 to 2019 were collected retrospectively, and analyzed. We divided our patients into...

Read the complete abstract on PubMed

Topics

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

Share to Adrenocorticotropic Hormone
Share to China

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Association Studies

Share to Intellectual Disability

Share to Munc18 Proteins

Share to Phenobarbital

Share to Phenotype

Share to Valproic Acid

Source

Open in PubMed Open full text

Identifiers

PMID: 36882827
DOI: 10.1186/s12920-023-01474-2
PMCID: PMC9990233

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype correlations of STXBP1 pathogenic variants and the treatment choices for STXBP1-related disorders in China.PMID 36882827Read ↗

Clinical and genotypic characteristics of 19 children with STXBP1-encephalopathy.Semantic proximity Read ↗

Phenotypic and genotypic characteristics of children STXBP1-related disorders.Semantic proximity Read ↗

[Clinical and genetic characteristics of children with STXBP1 encephalopathy].Semantic proximity Read ↗

STXBP1 encephalopathy: A neurodevelopmental disorder including epilepsy.Semantic proximity Read ↗

De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.Semantic proximity Read ↗

STXBP1-Related Disorders: Clinical Presentation, Molecular Function, Treatment, and Future Directions.Semantic proximity Read ↗

Early life seizures and epileptic spasms in<i>STXBP1</i>-related disordersSemantic proximity Read ↗

STXBP1 encephalopathies: Clinical spectrum, disease mechanisms, and therapeutic strategies.Semantic proximity Read ↗

Delineation of epileptic and neurodevelopmental phenotypes associated with variants in STX1B.Semantic proximity Read ↗

Efficacy of levetiracetam in STXBP1 encephalopathy with different phenotypic and genetic spectra.Semantic proximity Read ↗

Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.Semantic proximity Read ↗

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.Semantic proximity Read ↗

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