Judith Weisenberg

Associate Professor of Neurology

  • 1319 Citations

Research output per year

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Personal profile

Research interests

My interests include etiology of developmental delay, the genetics of epilepsy as well as neonatal seizures and their impact on longterm development. My current research project looks at how global developmental delay is one of the most common problems evaluated by child neurologists and geneticists. Chromosomal microarray is a newer technology that allows a targeted analysis for microdeletions and microduplications of the entire genome. Currently we are completing a retrospective chart review of all subjects who had a chromosomal microarray at St. Louis Children's Hospital over a two year period. We are looking at the utilization, limitations, diagnostic yield and clinical variables that might be predictive of an abnormal result.

Areas of Clinical Interest

General neurology inpatient and outpatient care, epilepsy, seizures, CDKL5, Rett Spectrum, EEG monitoring, newborn and pediatric inpatient neurological consultation, general inpatient pediatric medicine care, clinical neurophysiologist, 

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Research Output

  • 1319 Citations
  • 15 Article
  • 2 Review article
  • 1 Chapter
  • 1 Comment/debate

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

Epi4K Consortium, Nov 1 2019, In : Epilepsia. 60, 11, p. 2194-2203 10 p.

Research output: Contribution to journalArticle

  • Severity Assessment in CDKL5 Deficiency Disorder

    Demarest, S., Pestana-Knight, E. M., Olson, H. E., Downs, J., Marsh, E. D., Kaufmann, W. E., Partridge, C. A., Leonard, H., Gwadry-Sridhar, F., Frame, K. E., Cross, J. H., Chin, R. F. M., Parikh, S., Panzer, A., Weisenberg, J., Utley, K., Jaksha, A., Amin, S., Khwaja, O., Devinsky, O. & 3 others, Neul, J. L., Percy, A. K. & Benke, T. A., Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

    Research output: Contribution to journalArticle

  • 1 Scopus citations

    Gain-of-function HCN2 variants in genetic epilepsy

    Li, M., Maljevic, S., Phillips, A. M., Petrovski, S., Hildebrand, M. S., Burgess, R., Mount, T., Zara, F., Striano, P., Schubert, J., Thiele, H., Nürnberg, P., Wong, M., Weisenberg, J. L., Thio, L. L., Lerche, H., Scheffer, I. E., Berkovic, S. F., Petrou, S. & Reid, C. A., Feb 1 2018, In : Human mutation. 39, 2, p. 202-209 8 p.

    Research output: Contribution to journalArticle

  • 8 Scopus citations

    Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

    The International League Against Epilepsy Consortium on Complex Epilepsies, Dec 1 2018, In : Nature communications. 9, 1, 5269.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations

    Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

    Epi4K Consortium, Epilepsy Phenome Genome Project & EuroEPINOMICS-RES Consortium, Jun 1 2017, In : European Journal of Human Genetics. 25, 7, p. 894-899 6 p.

    Research output: Contribution to journalArticle

    Open Access
  • 3 Scopus citations