Bio

Clinical Focus


  • Neurology - Child Neurology

Academic Appointments


Professional Education


  • Residency:Stanford University Pediatric Residency (2014) CA
  • Fellowship:Stanford Neuroscience Health Center (2018) CA
  • Board Certification: Neurology - Child Neurology, American Board of Psychiatry and Neurology (2017)
  • Board Certification: Pediatrics, American Board of Pediatrics (2017)
  • Fellowship:Stanford Neuroscience Health Center (2017) CA
  • Medical Education:University of Cincinnati College of Medicine (2012) OH

Publications

All Publications


  • Clustered Cytochrome-oxidase Negative Myofibers in Muscular Dystrophies: A Novel Finding Cayrol, R., Klotz, J., Vogel, H. OXFORD UNIV PRESS INC. 2019: 543
  • Chronic Polyneuritis of Childhood JOURNAL OF PEDIATRICS Klotz, J., Rocha, C. 2019; 208: 175
  • 50 Years Ago in The Journal of Pediatrics: Chronic Polyneuritis of Childhood. The Journal of pediatrics Klotz, J., Tesi Rocha, C. 2019; 208: 175

    View details for PubMedID 31027619

  • Use of Flow Cytometry for Diagnosis of Epilepsy Associated With Homozygous PIGW Variants. Pediatric neurology Foskett, G. K., Engleman, E., Klotz, J., Choi, O., Tolentino, L., Kochhar, A., Yang, Q. Z., Stevenson, D. A. 2018

    Abstract

    BACKGROUND: Biallelic variants in PIGW have been suggested to cause infantile spasms and hyperphosphatasia. PIGW encodes for a protein involved in the third step of glycosylphosphatidylinositol (GPI) synthesis. GPI anchored proteins are increasingly recognized as important structures for cellular interactions and neuronal development.METHODS: Molecular testing of PIGW was performed followed by fluorescence activating cell sorting analysis of granulocytes, lymphocytes, and monocytes, and compared to controls.FINDINGS: An infant was homozygous for variants in PIGW (c.199C>G; p.Pro67Ala) with an associated phenotype of infantile spasms, myoclonic seizures, cortical visual impairment, developmental delay, and minor dysmorphic features. Alkaline phosphatase levels ranged from normal to mildly elevated. Flow cytometric studies showed significantly decreased expression of important GPIs, providing functional evidence of pathogenicity.CONCLUSION: Our data provide further evidence of a novel autosomal recessive PIGW-related epilepsy disorder. Flow cytometry provided functional evidence of the pathogenicity of homozygous variants of uncertain significance in PIGW, and supports the use of flow cytometry as a functional tool to demonstrate decreased surface expression of GPI anchored proteins in cases where there are variants of unknown significance.

    View details for PubMedID 30078644

  • Mutations in the Na(+)/citrate cotransporter NaCT (SLC13A5) in pediatric patients with epilepsy and developmental delay. Molecular medicine Klotz, J., Porter, B. E., Colas, C., Schlessinger, A., Pajor, A. M. 2016; 22

    Abstract

    Mutations in the SLC13A5 gene that codes for the Na(+)/citrate cotransporter, NaCT, are associated with early onset epilepsy, developmental delay and tooth dysplasia in children. In the present study we identify additional SLC13A5 mutations in nine epilepsy patients from six families. To better characterize the syndrome, families with affected children answered questions about the scope of illness and treatment strategies. There are currently no effective treatments, but some anti-epileptic drugs targeting the GABA system reduce seizure frequency. Acetazolamide, a carbonic anhydrase inhibitor and atypical anti-seizure medication decreases seizures in 4 patients. In contrast to previous reports, the ketogenic diet and fasting produce worsening of symptoms. The effects of the mutations on NaCT transport function and protein expression were examined by transient transfections of COS-7 cells. There was no transport activity from any of the mutant transporters, although some of the mutant transporter proteins were present on the plasma membrane. The structural model of NaCT suggests that these mutations can affect helix packing or substrate binding. We tested various treatments, including chemical chaperones and low temperatures, but none improve transport function in the NaCT mutants. Interestingly, coexpression of NaCT and the mutants results in decreased protein expression and activity of the wild-type transporter, indicating functional interaction. In conclusion, our study has identified additional SLC13A5 mutations in patients with chronic epilepsy starting in the neonatal period, with the mutations producing inactive Na(+)/citrate transporters.

    View details for DOI 10.2119/molmed.2016.00077

    View details for PubMedID 27261973

  • Bordetella petrii Sinusitis in an Immunocompromised Adolescent. Pediatric infectious disease journal Nagata, J. M., Charville, G. W., Klotz, J. M., Wickremasinghe, W. R., Kann, D. C., Schwenk, H. T., Longhurst, C. A. 2015; 34 (4): 458-?

    View details for DOI 10.1097/INF.0000000000000564

    View details for PubMedID 25760569

  • Index of suspicion. Pediatrics in review Todd, S., Arora, R., Kannikeswaran, N., Allarakhia, I., Sivaswamy, L., Wallenstein, M. B., Burgener, E. B., Klotz, J., Kerner, J. A. 2014; 35 (10): 439-446

    View details for DOI 10.1542/pir.35-10-439

    View details for PubMedID 25274971