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 mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.

American journal of medical genetics. Part A - 1 Mar 2022

Penkl Anja, Reunert Janine, Debus Otfried M, Homann Anna, Och Ulrike, Rust Stephan, Marquardt Thorsten

Abstract excerpt

SCN2A (sodium channel 2A) encodes the Nav1.2 channel protein in excitatory neurons in the brain. Nav1.2 is a critical voltage-gated sodium channel of the central nervous system. Mutations in SCN2A are responsible for a broad phenotypic spectrum ranging from autism and developmental delay to severe encephalopathy with neonatal or early infantile onset. SCN2A can be spliced into two different isoforms, a neonatal...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Infant
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to NAV1.2 Voltage-Gated Sodium Channel

Share to Protein Isoforms

Share to Seizures

Share to Spasms, Infantile

Source

Identifiers

PMID: 34874093
DOI: 10.1002/ajmg.a.62581

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in the neonatal isoform of SCN2A causes neonatal-onset epilepsy.PMID 34874093Read ↗

A Novel SCN8A mutation in a case of early-onset infantile epileptic encephalopathy: A Case Report.Semantic proximity Read ↗

Rare dysfunctional SCN2A variants are associated with malformation of cortical development.Semantic proximity Read ↗

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.Semantic proximity Read ↗

SCN2A and arrhythmia: A potential correlation? A case report and literature review.Semantic proximity Read ↗

De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.Semantic proximity Read ↗

SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain.Semantic proximity Read ↗

Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy.Semantic proximity Read ↗

The phenotypic spectrum of SCN8A encephalopathy.Semantic proximity Read ↗

Phenotypic spectrum and genetics of SCN2A-related disorders, treatment options, and outcomes in epilepsy and beyond.Semantic proximity Read ↗

SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum.Semantic proximity Read ↗

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants.Semantic proximity Read ↗

SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain- and loss-of-function effects.Semantic proximity Read ↗

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