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

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsy

1 Dec 2017

Abstract excerpt

OBJECTIVE: variant identified by clinical exome sequencing of a proband with a neurodevelopmental disorder that included epilepsy and centrotemporal spikes on EEG. METHODS: variant c.595A>T (p.Ile199Phe). Biochemical and electrophysiologic experiments were performed to determine whether this variant affected protein expression, trafficking, and channel functional properties. RESULTS: Biochemical characterization...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Neurological disorders and treatments

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Source

Identifiers

PMID: 29264390
DOI: 10.1212/nxg.0000000000000198

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 24 Oct 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Characterization of a KCNB1 variant associated with autism, intellectual disability, and epilepsyPMID 29264390Read ↗

Neurodevelopmental Disorders Caused by De Novo Variants in KCNB1 Genotypes and Phenotypes.Semantic proximity Read ↗

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literatureSemantic proximity Read ↗

High throughput Characterization of <i>KCNB1</i> variants Associated with Developmental and Epileptic EncephalopathySemantic proximity Read ↗

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome.Semantic proximity Read ↗

De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypesSemantic proximity Read ↗

Neurological ChannelopathiesSemantic proximity Read ↗

Epilepsy and neurobehavioral abnormalities in mice with a dominant-negative KCNB1 pathogenic variantSemantic proximity Read ↗

Kv3.1 channelopathy: a novel loss-of-function variant and the mechanistic basis of its clinical phenotypesSemantic proximity Read ↗

De novo KCNB1 mutations in epileptic encephalopathy.Semantic proximity Read ↗

A novel epileptic encephalopathy mutation in <i>KCNB1</i> disrupts Kv2.1 ion selectivity, expression, and localizationSemantic proximity Read ↗

A novel de Novo KCNC1 mutation (c.1147 C > T) presenting with epilepsy and ADHD: a case report and literature review.Semantic proximity Read ↗

Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by <i>de novo</i> KCNC2 variantsSemantic proximity Read ↗

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