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

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jul 2020

Zhang Tian, Chen Mingwu, Zhu Angang, Zhang Xiaoguang, Fang Tao

Abstract excerpt

Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the α1 subunit of the γ-aminobutyric acid type A (GABAA) receptor, while seldom related with SCN9A gene, encoding the voltage-gated sodium channel NaV1.7. In this study, we...

Topics

Join the communities discussing this publication.

China
Epilepsy, Generalized
Mutation
Mutation, Missense
NAV1.1 Voltage-Gated Sodium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.7 Voltage-Gated Sodium Channel

Seizures, Febrile

Source

Open in PubMed Open full text

Identifiers

PMID: 32062735
DOI: 10.1007/s10072-020-04284-x
PMCID: PMC7359139

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel mutation of SCN9A gene causing generalized epilepsy with febrile seizures plus in a Chinese family.PMID 32062735Read ↗

A novel SCN1A missense mutation causes generalized epilepsy with febrile seizures plus in a Chinese family.Semantic proximity Read ↗

Novel mutation of SCN1A in familial generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus (GEFS+) spectrum: clinical manifestations and SCN1A mutations in Indonesian patients.Semantic proximity Read ↗

Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B.Semantic proximity Read ↗

Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.Semantic proximity Read ↗

De-novo mutations and genetic variation in the SCN1A gene in Malaysian patients with generalized epilepsy with febrile seizures plus (GEFS+).Semantic proximity Read ↗

GABRG2 mutations in genetic epilepsy with febrile seizures plus: structure, roles, and molecular genetics.Semantic proximity Read ↗

[Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].Semantic proximity Read ↗

Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

An epilepsy mutation in the sodium channel SCN1A that decreases channel excitability.Semantic proximity Read ↗

Q10R mutation in SCN9A gene is associated with generalized epilepsy with febrile seizures plus.Semantic proximity Read ↗

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