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Article

Disruption of Sodium Bicarbonate Transporter SLC4A10 in a Patient With Complex Partial Epilepsy and Mental Retardation

1 Apr 2008

Abstract excerpt

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...

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PMID: 18413482
DOI: 10.1001/archneur.65.4.550

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