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

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.

Clinica chimica acta; international journal of clinical chemistry - 1 Aug 2018

Kong Yanting, Yan Kai, Hu Liyuan, Wang Mingbang, Dong Xinran, Lu Yulan, Wu Bingbing, Wang Huijun, Yang Lin, Zhou Wenhao

Abstract excerpt

BACKGROUND: We investigated the association between SCN1A and SCN2A mutations and clinical phenotype and electroencephalography (EEG) features. METHODS: In this study, 48 patients suffered from epilepsy or severe seizures with SCN1A and SCN2A mutations were recruited. Medical data and molecular diagnosis were analyzed. RESULTS: A total of 47 mutations were identified, including 33 novel mutations. The onset of...

Read the complete abstract on PubMed

Topics

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

Share to Brain
Share to Electroencephalography

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Epilepsy

Share to Infant, Newborn

Share to Magnetic Resonance Imaging

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Seizures

Source

Identifiers

PMID: 29649454
DOI: 10.1016/j.cca.2018.03.027

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

Association between SCN1A and SCN2A mutations and clinical/EEG features in Chinese patients from epilepsy or severe seizures.PMID 29649454Read ↗

[Phenotype study of SCN2A gene related epilepsy].Semantic proximity Read ↗

SCN2A-Related Epilepsy: The Phenotypic Spectrum, Treatment and PrognosisSemantic proximity Read ↗

SCN8A mutations in Chinese patients with early onset epileptic encephalopathy and benign infantile seizuresSemantic proximity Read ↗

SCN8A gain-of-function mutation is associated with a relatively mild phenotype of epilepsySemantic proximity Read ↗

SCN2A and Its Related Epileptic PhenotypesSemantic proximity Read ↗

Phenotypic and genetic spectrum in Chinese children with SCN8A-related disorders.Semantic proximity Read ↗

Clinical characteristics and genetic analysis of patients with SCN1A gene pathological variant-related disorders: a single-center retrospective study.Semantic proximity Read ↗

Expanding spectrum of SCN1A-related phenotype with novel mutations.Semantic proximity Read ↗

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Semantic proximity Read ↗

Insights into clinical phenotypes and treatment responses in a Small cohort of Taiwanese patients with SCN1A variants: A Preliminary study.Semantic proximity Read ↗

The phenotypic spectrum of SCN2A-related epilepsy.Semantic proximity Read ↗

[Clinical features and genetic analysis of five children with epilepsies due to variants of SCN8A gene].Semantic proximity Read ↗

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