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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 l...

Read the complete abstract on PubMed

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genetic Linkage

Share to Mutation, Missense

Share to Quantitative Trait Loci

Share to Receptors, Calcium-Sensing

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Source

Identifiers

PMID: 18756473
DOI: 10.1002/ana.21428

Genes

CASR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18756473-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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