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

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.

Human mutation - 1 Jul 2018

Wagnon Jacy L, Mencacci Niccolò E, Barker Bryan S, Wengert Eric R, Bhatia Kailash P, Balint Bettina, Carecchio Miryam, Wood Nicholas W, Patel Manoj K, Meisler Miriam H

Abstract excerpt

Variants in the neuronal sodium channel gene SCN8A have been implicated in several neurological disorders. Early infantile epileptic encephalopathy type 13 results from de novo gain-of-function mutations that alter the biophysical properties of the channel. Complete loss-of-function variants of SCN8A have been identified in cases of isolated intellectual disability. We now report a novel heterozygous SCN8A...

Read the complete abstract on PubMed

Topics

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

Share to Epilepsy
Share to Heterozygote

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Intellectual Disability

Share to Loss of Function Mutation

Share to Myoclonus

Share to NAV1.6 Voltage-Gated Sodium Channel

Share to Pedigree

Share to Seizures

Source

Open in PubMed Open full text

Identifiers

PMID: 29726066
DOI: 10.1002/humu.23547
PMCID: PMC6032947

Variants

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

Partial loss-of-function of sodium channel SCN8A in familial isolated myoclonus.PMID 29726066Read ↗

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

Expanding the genotype-phenotype spectrum in SCN8A-related disorders.Semantic proximity Read ↗

Characterization of a de novo SCN8A mutation in a patient with epileptic encephalopathy.Semantic proximity Read ↗

Expanding the genotype-phenotype spectrum in SCN8A-related disordersSemantic proximity Read ↗

SCN8A encephalopathy: Mechanisms and models.Semantic proximity Read ↗

Pathogenic mechanism of recurrent mutations of <scp><i>SCN8A</i></scp> in epileptic encephalopathySemantic proximity Read ↗

Persistent sodium currents in SCN1A developmental and degenerative epileptic dyskinetic encephalopathySemantic proximity Read ↗

Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.Semantic proximity Read ↗

Loss of Function SPTAN1 Variants Result in Ataxia and Intellectual Disability.Semantic proximity Read ↗

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic EncephalopathySemantic proximity Read ↗

KCNC1‐related disorders: new de novo variants expand the phenotypic spectrumSemantic proximity Read ↗

SCN8A mutations in Chinese children with early onset epilepsy and intellectual disability.Semantic proximity Read ↗

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