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

[STXBP1 gene mutation in newborns with refractory seizures].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics - 1 Jul 2014

Liu Li-Li, Hou Xin-Lin, Zhou Cong-Le, Tang Ze-Zhong, Bao Xin-Hua, Jiang Yi

Abstract excerpt

OBJECTIVE: To study the relationship between STXBP1 gene mutations and refractory seizures with unknown causes in newborns. METHODS: The coding region of STXBP1 gene was detected using direct Sanger sequencing in 11 newborns with refractory seizures of unknown causes. RESULTS: STXBP1 gene mutatio...

Read the complete abstract on PubMed

Topics

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

Share to STXBP1 gene
Share to Infant, Newborn
Share to Munc18 Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Seizures

Source

Identifiers

PMID: 25008876

Genes

STXBP1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25008876-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 11 closest

[STXBP1 gene mutation in newborns with refractory seizures].PMID 25008876Read ↗

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

[Analysis of gene mutation of early onset epileptic spasm with unknown reason].Semantic proximity Read ↗

STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.Semantic proximity Read ↗

[Dynamin-1-related infantile spasms: a case report and review of literature].Semantic proximity Read ↗

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

Etiologic Classification of 541 Infantile Spasms Cases: A Cohort StudySemantic proximity Read ↗

STXBP1 mutations in early infantile epileptic encephalopathy with suppression‐burst patternSemantic proximity Read ↗

[Severe fetal anemia and neonatal epileptic encephalopathy caused by a novel PNPO mutation].Semantic proximity Read ↗

Sudden unexpected postnatal collapse and BUB1B mutation: first forensic case report.Semantic proximity Read ↗

[Infantile-onset refractory grand mal epilepsy with variable seizures].Semantic proximity Read ↗

Common ABCB1 polymorphisms associated with susceptibility to infantile spasms in the Chinese Han population.Semantic proximity Read ↗

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