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Article

A mutation affecting the sodium/proton exchanger, SLC9A6, causes mental retardation with tau deposition.

Brain : a journal of neurology - 1 May 2010

Garbern James Y, Neumann Manuela, Trojanowski John Q, Lee Virginia M-Y, Feldman Gerald, Norris Joy W, Friez Michael J, Schwartz Charles E, Stevenson Roger, Sima Anders A F

Abstract excerpt

We have studied a family with severe mental retardation characterized by the virtual absence of speech, autism spectrum disorder, epilepsy, late-onset ataxia, weakness and dystonia. Post-mortem examination of two males revealed widespread neuronal loss, with the most striking finding being neuron...

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Identifiers

PMID: 20395263
DOI: 10.1093/brain/awq071
PMCID: PMC2859154

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20395263-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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