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

A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy.

Epilepsy & behavior : E&B - 1 Oct 2021

Suo Guihai, Cao Xing, Zheng Yuqin, Li Haiying, Zhang Qi, Tang Jihong, Wu Youjia

Abstract excerpt

Mutations in syntaxin-binding protein 1, STXBP1 (also known as MUNC18-1), are linked to multiple neurodevelopmental disorders, including severe early-onset epileptic encephalopathies (EOEEs). A de novo nonsense mutation of STXBP1 (c. 863G > A, p. W288X) was found in a patient diagnosed with EOEE at the age of 17 days. The electroencephalogram (EEG) showed sharp waves and spikes, while brain magnetic resonance...

Read the complete abstract on PubMed

Topics

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

Share to Anticonvulsants
Share to Codon, Nonsense
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Infant, Newborn

Share to Munc18 Proteins

Share to Spasms, Infantile

Share to Zebrafish

Source

Identifiers

PMID: 34390894
DOI: 10.1016/j.yebeh.2021.108245

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

A de novo nonsense mutation of STXBP1 causes early-onset epileptic encephalopathy.PMID 34390894Read ↗

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

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

Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.Semantic proximity Read ↗

Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.Semantic proximity Read ↗

Epilepsy, Behavioral Abnormalities, and Physiological Comorbidities in Syntaxin-Binding Protein 1 (STXBP1) Mutant Zebrafish.Semantic proximity Read ↗

Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.Semantic proximity Read ↗

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

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.Semantic proximity Read ↗

STXBP1 as a therapeutic target for epileptic encephalopathy.Semantic proximity Read ↗

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

Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.Semantic proximity Read ↗

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.Semantic proximity Read ↗

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