Disease Heterogeneity in Na+/Citrate Cotransporter Deficiency

  • Irina AnselmEmail author
  • Morgan MacCuaig
  • Sanjay B. Prabhu
  • Gerard T. Berry
Case Report
Part of the JIMD Reports book series (JIMD, volume 31)


We report a novel mutation found in two siblings, a male and a female aged 8 and 5 years, respectively. Both patients presented with developmental delay and intractable seizures consistent with previous reports of SLC13A5 transporter deficiency. Both had two mutations in the SLC13A5 gene, c.655G>A (G219R) and the novel mutation c.245A>G (Y82C). However, the phenotypes were not identical as the female had focal cortical dysplasia that led to brain surgery. This is another example of the heterogeneity in disease expression even when the genotype is identical in the affected individuals.


Ketogenic Diet SLC13A5 Gene Focal Cortical Dysplasia Epileptic Encephalopathy Intractable Seizure 
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Copyright information

© SSIEM and Springer-Verlag Berlin Heidelberg 2016

Authors and Affiliations

  • Irina Anselm
    • 1
    Email author
  • Morgan MacCuaig
    • 2
  • Sanjay B. Prabhu
    • 3
  • Gerard T. Berry
    • 4
  1. 1.Department of Neurology, Harvard Medical SchoolBoston Children’s HospitalBostonUSA
  2. 2.Department of NeurologyBoston Children’s HospitalBostonUSA
  3. 3.Department of Radiology, Harvard Medical SchoolBoston Children’s HospitalBostonUSA
  4. 4.Division of Genetics and Genomics, Department of Pediatrics, Harvard Medical SchoolBoston Children’s HospitalBostonUSA

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