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 of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.

European review for medical and pharmacological sciences - 1 Jan 2014

Zhang Y, Zou L-P, Ding Y-X, He B, Yang G

Abstract excerpt

OBJECTIVES: Infantile spasms (IS) are severe epileptic encephalopathy during infancy. The SCN1A encodes the α1 subunit of the neuronal voltage-gated sodium channels, and mutations in SCN1A have been frequently detected in idiopathic epilepsy and encephalopathy, which had similar symptoms as IS. Therefore, we investigated the association of SCN1A polymorphism with the IS and the responsiveness to...

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 Genotype
Share to Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Infant, Newborn

Share to NAV1.1 Voltage-Gated Sodium Channel

Share to Polymorphism, Genetic

Share to Polymorphism, Single Nucleotide

Share to Spasms, Infantile

Source

Identifiers

PMID: 25268096

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 of SCN1A gene polymorphisms with infantile spasms and adrenocorticotropic hormone responsiveness.PMID 25268096Read ↗

Genetic polymorphisms of MC2R gene associated with responsiveness to adrenocorticotropic hormone therapy in infantile spasms.Semantic proximity Read ↗

A possible association of responsiveness to adrenocorticotropic hormone with specific GRIN1 haplotypes in infantile spasms.Semantic proximity Read ↗

Analysis of single nucleotide polymorphisms in the melanocortin-4 receptor promoter in infantile spasms.Semantic proximity Read ↗

ACTH receptor (MC2R) promoter variants associated with infantile spasms modulate MC2R expression and responsiveness to ACTH.Semantic proximity Read ↗

Association analysis of polymorphisms of the CRHR1 gene with infantile spasms.Semantic proximity Read ↗

Factors Influencing the Response of Infantile Epileptic Spasm Syndrome Patients to ACTH as Repeated First-Line TherapySemantic proximity Read ↗

NR3C1 gene polymorphism for genetic susceptibility to infantile spasms in a Chinese population.Semantic proximity Read ↗

Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.Semantic proximity Read ↗

SCN2A mutation in a Chinese boy with infantile spasm - response to Modified Atkins Diet.Semantic proximity Read ↗

SCN2A mutation is associated with infantile spasms and bitemporal glucose hypometabolism.Semantic proximity Read ↗

SCN1AIVS5-91G>A polymorphism is associated with susceptibility to epilepsy but not with drug responsiveness.Semantic proximity Read ↗

Sodium channel α1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasmsSemantic proximity Read ↗

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