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 de novo SCN2A mutation in a child with migrating focal seizures of infancy.

Pediatric neurology - 1 Dec 2013

Dhamija Radhika, Wirrell Elaine, Falcao Germano, Kirmani Salman, Wong-Kisiel Lily C

Abstract excerpt

BACKGROUND: Migrating focal seizures of infancy are characterized by seizure onset within 7 months of age, migrating focal motor seizures with multifocal ictal electroencephalography discharges intractable to conventional antiepileptic drugs, and poor prognosis. Reported genetic etiologies include SCN1A and KCNT1 mutations and homozygous deletion of the PLCB1 gene. Here we report a novel SCN2A mutation in a child...

Topics

Join the communities discussing this publication.

Electroencephalography
DNA Mutational Analysis
Epilepsy research and treatment
Genomics and Rare Diseases
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

NAV1.2 Voltage-Gated Sodium Channel

Source

Identifiers

PMID: 23988467
DOI: 10.1016/j.pediatrneurol.2013.07.004

Genes

KCNT1
PLCB1

Variants

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 de novo SCN2A mutation in a child with migrating focal seizures of infancy.PMID 23988467Read ↗

SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.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 ↗

SCN2A mutation in an infant presenting with migrating focal seizures and infantile spasm responsive to a ketogenic diet.Semantic proximity Read ↗

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum.Semantic proximity Read ↗

A de novo missense mutation in SLC12A5 found in a compound heterozygote patient with epilepsy of infancy with migrating focal seizuresSemantic proximity Read ↗

Epilepsy of infancy with migrating focal seizures due to a novel homozygous mutation in KCNT1 gene: A case report.Semantic proximity Read ↗

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures.Semantic proximity Read ↗

A 4-Year-Old Bahraini Girl With Developmental Delay and Epilepsy of Infancy With Migrating Focal Seizures Associated With KCNT1 Gene Mutation.Semantic proximity Read ↗

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins.Semantic proximity Read ↗

The Epilepsy of Infancy With Migrating Focal Seizures: Identification of de novo Mutations of the KCNT2 Gene That Exert Inhibitory Effects on the Corresponding Heteromeric KNa1.1/KNa1.2 Potassium ChannelSemantic proximity Read ↗

Analysis of clinical phenotypic and genotypic spectra in 36 children patients with Epilepsy of Infancy with Migrating Focal Seizures.Semantic proximity Read ↗

KCNQ2 encephalopathy: A case due to a de novo deletion.Semantic proximity Read ↗

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