Jenna Klotz, MD

  • Jenna Marie Klotz

Especialidades médicas y/o especialidades quirúrgicas

Neurology with Special Qualifications in Child Neurology

Trabajo y educación


University of Cincinnati College of Medicine, Cincinnati, OH, 06/09/2012

Últimos años de residencia

Stanford Health Care at Lucile Packard Children's Hospital, Palo Alto, CA, 6/30/2014


Stanford Neuroscience Health Center, Palo Alto, CA, 06/30/2017

Stanford Neuroscience Health Center, Palo Alto, CA, 6/30/2018

Certificado(s) de especialidad

Clinical Neurophysiology, American Board of Psychiatry and Neurology

Electrodiagnostic Medicine, American Board of Electrodiagnostic Medicine

Neurology with Special Qualifications in Child Neurology, American Board of Psychiatry and Neurology

Pediatrics, American Board of Pediatrics

Todo Publicaciones

NGLY1 deficiency: a prospective natural history study (NHS). Human molecular genetics Tong, S., Ventola, P., Frater, C. H., Klotz, J., Phillips, J. M., Muppidi, S., Dwight, S. S., Mueller, W. F., Beahm, B. J., Wilsey, M., Lee, K. J. 2023


N-glycanase 1 (NGLY1) Deficiency is a debilitating, ultra-rare autosomal recessive disorder caused by loss of function of NGLY1, a cytosolic enzyme that deglycosylates other proteins. It is characterized by severe global developmental delay and/or intellectual disability, hyperkinetic movement disorder, transient elevation of transaminases, (hypo)alacrima, and progressive, diffuse, length-dependent sensorimotor polyneuropathy. A prospective natural history study (NHS) was conducted to elucidate clinical features and disease course. Twenty-nine participants were enrolled (15 onsite, 14 remotely) and followed for up to 32months, representing ~29% of the ~100 patients identified worldwide. Participants exhibited profound developmental delays, with almost all developmental quotients below 20 on the Mullen Scales of Early Learning, well below the normative score of 100. Increased difficulties with sitting and standing suggested decline in motor function over time. Most patients presented with (hypo)alacrima and reduced sweat response. Pediatric quality of life was poor except for emotional function. Language/communication and motor skill problems including hand use were reported by caregivers as the most bothersome symptoms. Levels of the substrate biomarker, GlcNAc-Asn (aspartylglucosamine; GNA), were consistently elevated in all participants over time, independent of age. Liver enzymes were elevated for some participants but improved especially in younger patients and did not reach levels indicating severe liver disease. Three participants died during the study period. Data from this NHS informs selection of endpoints and assessments for future clinical trials for NGLY1 Deficiency interventions. Potential endpoints include GNA biomarker levels, neurocognitive assessments, autonomic and motor function (particularly hand use), (hypo)alacrima, and quality of life.

View details for DOI 10.1093/hmg/ddad106

View details for PubMedID 37379343

Advancing Team-Based Care for Spinal Muscular Atrophy: A Multi-State Project ECHO Initiative and National Education Strategy Gabriel, D., Tesi-Rocha, A., Klotz, J., Adewuya, R., Hack, L., Hess, W. LIPPINCOTT WILLIAMS & WILKINS. 2023
Advances in the therapy of Spinal Muscular Atrophy. The Journal of pediatrics Klotz, J., Rocha, C. T., Young, S. D., Duong, T., Buu, M., Sampson, J., Day, J. W. 2021

View details for DOI 10.1016/j.jpeds.2021.06.033

View details for PubMedID 34197889

Video Teaching NeuroImages: Atypical abnormal eye movements in PNPO-related Epilepsy. Neurology Pavitt, S., Karamian, A. G., Chattree, G., Klotz, J., Beres, S. 2020

View details for DOI 10.1212/WNL.0000000000010861

View details for PubMedID 32913027

Atypical abnormal eye movements in PNPO-related epilepsy Pavitt, S., Karamian, A., Chattree, G., Klotz, J., Beres, S. LIPPINCOTT WILLIAMS & WILKINS. 2020
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. n., Tesi Rocha, C. n. 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


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


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