Research Output per year
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
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 journal › Article
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, , Aug 2019, In : Pediatric Neurology. 97, p. 38-42 5 p.Research output: Contribution to journal › Article
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 journal › Article
7
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 journal › Article
Open Access
2
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 journal › Article
Open Access
3
Scopus
citations