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

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


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Chromosome Breakage
  • Chromosomes, Human, Pair 13 / genetics
  • Chromosomes, Human, Pair 2 / genetics
  • Electroencephalography
  • Epilepsy, Complex Partial / diagnosis
  • Epilepsy, Complex Partial / genetics*
  • Epilepsy, Frontal Lobe / diagnosis
  • Epilepsy, Frontal Lobe / genetics*
  • Female
  • Humans
  • In Situ Hybridization, Fluorescence
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Oligonucleotide Array Sequence Analysis
  • Sodium-Bicarbonate Symporters / genetics*
  • Stanford-Binet Test
  • Translocation, Genetic / genetics


  • Sodium-Bicarbonate Symporters