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Article

Carriers of recessive WNK1/HSN2 mutations for hereditary sensory and autonomic neuropathy type 2 (HSAN2) are more sensitive to thermal stimuli.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 18 Feb 2009

Loggia Marco L, Bushnell M Catherine, Tétreault Martine, Thiffault Isabelle, Bhérer Claude, Mohammed Nazma K, Kuchinad Anil A, Laferrière Audrey, Dicaire Marie-Josée, Loisel Lina, Mogil Jeffrey S, Brais Bernard

Abstract excerpt

Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a rare recessive genetic disorder characterized by severe sensory loss affecting the tactile, thermal and nociceptive modalities. Although heterozygous carriers of nonsense mutations in the HSN2 gene, called with-no-lysine(K)-1 (WNK1), do not develop the disease, historical and experimental evidence suggests that these individuals might perceive...

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Source

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Identifiers

PMID: 19228968
DOI: 10.1523/JNEUROSCI.4633-08.2009
PMCID: PMC2749662

Genes

WNK1

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.

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