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Arch Neurol. 2008 Apr;65(4):550-3. doi: 10.1001/archneur.65.4.550.

Disruption of sodium bicarbonate transporter SLC4A10 in a patient with complex partial epilepsy and mental retardation.

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1
Department of Neurology, Washington University School of Medicine, Campus Box 8111, 660 S Euclid Ave, St Louis, Missouri 63110, USA. gurnettc@neuro.wustl.edu

Abstract

OBJECTIVE:

To determine gene(s) disrupted in a patient with partial frontal lobe epilepsy and cognitive impairment with concomitant de novo balanced chromosomal translocation t(2;13)(q24;q31).

DESIGN:

Fluorescence in situ hybridization and array comparative genomic hybridization were used to map the locations of chromosomal translocation breakpoints.

RESULTS:

SLC4A10 (OMIM 605556), a sodium bicarbonate transporter gene with high expression in the cerebral cortex and hippocampus, was disrupted by the translocation breakpoint on chromosome 2q24. The breakpoint on chromosome 13q31 was in a 1-megabase (Mb)-gene desert. Genomewide array comparative genomic hybridization confirmed the absence of additional chromosomal abnormalities.

CONCLUSION:

SLC4A10 is the third SLC4 base transporter family member to be implicated in human cognition and epilepsy.

PMID:
18413482
DOI:
10.1001/archneur.65.4.550
[Indexed for MEDLINE]
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