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

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.

Annals of neurology - 1 Aug 2008

Kapoor Ashish, Satishchandra Parthasarathy, Ratnapriya Rinki, Reddy Ramesh, Kadandale Jayaram, Shankar Susarla K, Anand Anuranjan

Abstract excerpt

OBJECTIVE: To identify the disease locus in a three-generation south Indian family having several of its members affected with idiopathic epilepsy. METHODS: Genome-wide parametric linkage analysis was performed with 382 autosomal markers. Mutational analysis of the positional candidate genes in linked interval was performed by direct sequencing of genomic DNA from the proband in the family. Expression analysis in...

Read the complete abstract on PubMed

Topics

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

Share to Chromosomes, Human, Pair 3
Share to Epilepsy, Generalized

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

Share to Extracellular Fluid

Share to Genetic Linkage

Share to Mutation, Missense

Share to Quantitative Trait Loci

Share to Receptors, Calcium-Sensing

Share to Syndrome

Source

Identifiers

PMID: 18756473
DOI: 10.1002/ana.21428

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 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

An idiopathic epilepsy syndrome linked to 3q13.3-q21 and missense mutations in the extracellular calcium sensing receptor gene.PMID 18756473Read ↗

RYR3 Variants Are Potentially Associated With Idiopathic (Non-Lesional) Partial Epilepsy/Susceptibility of Seizures, Toward Understanding the Gene-Disease Association by Genetic Dependent Nature.Semantic proximity Read ↗

Mapping of the calcium-sensing receptor gene (CASR) to human Chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat Chromosome 11 and mouse Chromosome 16Semantic proximity Read ↗

Genetic variation at the calcium-sensing receptor (CASR) locus: implications for clinical molecular diagnostics.Semantic proximity Read ↗

Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene.Semantic proximity Read ↗

CaV3.3 Channelopathies.Semantic proximity Read ↗

CACNA1I gain-of-function mutations differentially affect channel gating and cause neurodevelopmental disorders.Semantic proximity Read ↗

Naturally-occurring mutation in the calcium-sensing receptor reveals the significance of extracellular domain loop III region for class C G-protein-coupled receptor function.Semantic proximity Read ↗

A novel locus for idiopathic generalized epilepsy in French-Canadian families maps to 10p11.Semantic proximity Read ↗

Association of common variants in the calcium-sensing receptor gene with serum calcium levels in East Asians.Semantic proximity Read ↗

Genome search for susceptibility loci of common idiopathic generalised epilepsies.Semantic proximity Read ↗

Effects of Ca<sub>v</sub>3.2 channel mutations linked to idiopathic generalized epilepsySemantic proximity Read ↗

Genetic association of KCNJ10 rs1130183 with seizure susceptibility and computational analysis of deleterious non-synonymous SNPs of KCNJ10 gene.Semantic proximity Read ↗

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