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Article

Naturally occurring carboxypeptidase A6 mutations: effect on enzyme function and association with epilepsy.

The Journal of biological chemistry - 14 Dec 2012

Sapio Matthew R, Salzmann Annick, Vessaz Monique, Crespel Arielle, Lyons Peter J, Malafosse Alain, Fricker Lloyd D

Abstract excerpt

Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or temporal lobe epilepsy. In this study we screened for additional CPA6 mutations in patients with febrile seizures and focal epilepsy, which encompasses the temporal lobe...

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Source

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Identifiers

PMID: 23105115
DOI: 10.1074/jbc.M112.414094
PMCID: PMC3522286

Genes

CPA6

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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