Judith Weisenberg

Associate Professor of Neurology

1160 Citations

If you made any changes in Pure, your changes will be visible here soon.

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.

Fingerprint Dive into the research topics where Judith Weisenberg is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

4 Similar Profiles

Epilepsy Medicine & Life Sciences

Brain Diseases Medicine & Life Sciences

Seizures Medicine & Life Sciences

Mutation Medicine & Life Sciences

Infantile Spasms Medicine & Life Sciences

felbamate Medicine & Life Sciences

Genes Medicine & Life Sciences

Genome Medicine & Life Sciences

Network Recent external collaboration on country level. Dive into details by clicking on the dots.

Research Output 2010 2019

1160 Citations
14 Article
2 Review article
1 Chapter
1 Comment/debate

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 1 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.

Research output: Contribution to journal › Article › Research › peer-review

Epilepsy

Natural History

Consensus

Cyclin-Dependent Kinase 5

Clinical Trials

5 Citations (Scopus)

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., 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 journal › Article › Research › peer-review

Generalized Epilepsy

Epilepsy

Hyperpolarization-Activated Cyclic Nucleotide-Gated Channels

Juvenile Myoclonic Epilepsy

Reflex Epilepsy

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 journal › Article › Research › peer-review

Open Access

epilepsy

genome

loci

Epilepsy

Genes

3 Citations (Scopus)

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 journal › Article › Research › peer-review

Open Access

Brain Diseases

Infantile Spasms

Genes

Recessive Genes

Ion Channels

1 Citation (Scopus)

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Appenzeller, S., Balling, R., Barisic, N., Baulac, S., Caglayan, H., Craiu, D., De Jonghe, P., Depienne, C., Dimova, P., Djémié, T., Gormley, P., Guerrini, R., Helbig, I., Hjalgrim, H., Hoffman-Zacharska, D., Jähn, J., Klein, K. M., Koeleman, B., Komarek, V., Krause, R. & 111 others, Kuhlenbäumer, G., Leguern, E., Lehesjoki, A. E., Lemke, J. R., Lerche, H., Linnankivi, T., Marini, C., May, P., Møller, R. S., Muhle, H., Pal, D., Palotie, A., Pendziwiat, M., Robbiano, A., Roelens, F., Rosenow, F., Selmer, K., Serratosa, J. M., Sisodiya, S., Stephani, U., Sterbova, K., Striano, P., Suls, A., Talvik, T., von Spiczak, S., Weber, Y., Weckhuysen, S., Zara, F., Abou-Khalil, B., Alldredge, B. K., Andermann, E., Andermann, F., Amrom, D., Bautista, J. F., Berkovic, S. F., Bluvstein, J., Boro, A., Cascino, G., Consalvo, D., Crumrine, P., Devinsky, O., Dlugos, D., Epstein, M. P., Fiol, M., Fountain, N. B., French, J., Friedman, D., Geller, E. B., Glauser, T., Glynn, S., Haas, K., Haut, S. R., Hayward, J., Helmers, S. L., Joshi, S., Kanner, A., Kirsch, H. E., Knowlton, R. C., Kossoff, E. H., Kuperman, R., Kuzniecky, R., Lowenstein, D. H., McGuire, S. M., Motika, P. V., Novotny, E. J., Ottman, R., Paolicchi, J. M., Parent, J., Park, K., Poduri, A., Sadleir, L., Scheffer, I. E., Shellhaas, R. A., Sherr, E., Shih, J. J., Singh, R., Sirven, J., Smith, M. C., Sullivan, J., Thio, L. L., Venkat, A., Vining, E. P. G., Von Allmen, G. K., Weisenberg, J., Widdess-Walsh, P., Winawer, M. R., Allen, A. S., Berkovic, S. F., Cossette, P., Delanty, N., Dlugos, D., Eichler, E. E., Epstein, M. P., Glauser, T., Goldstein, D. B., Han, Y., Heinzen, E. L., Johnson, M. R., Kuzniecky, R., Lowenstein, D. H., Marson, A. G., Mefford, H. C., Nieh, S. E., O'Brien, T. J., Ottman, R., Petrou, S., Petrovski, S., Poduri, A., Ruzzo, E. K., Scheffer, I. E. & Sherr, E., Jan 5 2017, In : American journal of human genetics. 100, 1, 1 p.

Research output: Contribution to journal › Comment/debate › Research

Open Access

Medical Genetics

Brain Diseases

Synaptic Transmission

Names

Epilepsy