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

Autosomal dominant SCN8A mutation with an unusually mild phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Sept 2016

Anand G, Collett-White F, Orsini A, Thomas S, Jayapal S, Trump N, Zaiwalla Z, Jayawant S

Abstract excerpt

BACKGROUND: Mutations in SCN8A, coding for the voltage-gated sodium channel Nav 1.6, have been described in relation to infantile onset epilepsy with developmental delay and cognitive impairment, in particular early onset epileptic encephalopathy (EIEE) type 13. CASE REPORT: Here we report an infant and his father with early onset focal epileptic seizures but without cognitive or neurological impairment in whom...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy, Benign Neonatal
Share to Epilepsy research and treatment

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to High-Throughput Nucleotide Sequencing

Share to Infant

Share to Mutation

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Phenotype

Source

Identifiers

PMID: 27210545
DOI: 10.1016/j.ejpn.2016.04.015

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

Autosomal dominant SCN8A mutation with an unusually mild phenotype.PMID 27210545Read ↗

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

SCN1A-related epilepsy with recessive inheritance: Two further families.Semantic proximity Read ↗

A Novel Inherited Mutation of SCN8A in a Korean Family with Benign Familial Infantile Epilepsy Using Diagnostic Exome Sequencing.Semantic proximity Read ↗

Severe epilepsy syndromes of early childhood: the link between genetics and pathophysiology with a focus on SCN1A mutations.Semantic proximity Read ↗

SCN8A Encephalopathy: Case Report and Literature ReviewSemantic proximity Read ↗

A relatively mild phenotype associated with mutation of SCN8A.Semantic proximity Read ↗

The phenotypic spectrum of SCN8A encephalopathy.Semantic proximity Read ↗

De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.Semantic proximity Read ↗

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

SCN1A testing for epilepsy: application in clinical practice.Semantic proximity Read ↗

Homozygous mutations in the SCN1A gene associated with genetic epilepsy with febrile seizures plus and Dravet syndrome in 2 families.Semantic proximity Read ↗

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy.Semantic proximity Read ↗

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