JudithLeonaWeisenbergMD

PubMed

• The development, content and response process validation of a caregiver-reported severity measure for CDKL5 deficiency disorder.
  Sonja I Ziniel, Alexandra Mackie, Jacinta Saldaris, Helen Leonard, Peter Jacoby, Eric D Marsh, Bernhard Suter, Elia Pestana-Knight, Heather E Olson, Dana Price, Judith...> ;Epilepsy Research. 2023 Nov 1
• 8 citations
  CDKL5 Deficiency Disorder-Related Epilepsy: A Review of Current and Emerging Treatment.
  William Hong, Isabel Haviland, Elia Pestana-Knight, Judith L Weisenberg, Scott Demarest, Eric D Marsh, Heather E Olson> ;CNS Drugs. 2022 Jun 1
• 19 citations
  Current neurologic treatment and emerging therapies in CDKL5 deficiency disorder
  Heather E. Olson, Carolyn I. Daniels, Isabel Haviland, Lindsay C. Swanson, Caitlin A. Greene, Anne Marie M. Denny, Scott T. Demarest, Elia Pestana-Knight, Xiaoming Zha...> ;Journal of Neurodevelopmental Disorders. 2021 Sep 16
• 3 citations
  Familial aggregation of status epilepticus in generalized and focal epilepsies
  Judith L.Z. Weisenberg, Robert T. Fitzgerald, John N. Constantino, Melodie R Winawer, Liu Lin Thio, Epgp Investigators> ;Neurology. 2020 Oct 13
• Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies
  Bassel Abou-Khalil, Zaid Afawi, Andrew S. Allen, Jocelyn F. Bautista, Susannah T. Bellows, Samuel F. Berkovic, Judith Bluvstein, Rosemary Burgess, Gregory D. Cascino, ...> ;Epilepsia. 2019 Nov 1
• 36 citations
  Severity Assessment in CDKL5 Deficiency Disorder.
  Scott Demarest, Elia Pestana-Knight, Heather E. Olson, Jenny Downs, Eric D. Marsh, Walter E. Kaufmann, Carol-Anne Partridge, Helen Leonard, Femida Gwadry-Sridhar, Kath...> ;Pediatric Neurology. 2019 Aug 1
• 246 citations
  Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
  Bassel Abou-Khalil, Pauls Auce, Andreja Avbersek, Melanie Bahlo, David J. Balding, Thomas Bast, Larry Baum, Albert J. Becker, Felicitas Becker, Bianca Berghuis, Samuel...> ;Nature Communications. 2018 Dec 10
• 22 citations
  Gain-of-function HCN2 variants in genetic epilepsy.
  Melody Li, Snezana Maljevic, A. Marie Phillips, Slavé Petrovski, Michael S. Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schube...> ;Human Mutation. 2018 Feb 1
• 149 citations
  Ultra-rare genetic variation in common epilepsies: a case-control sequencing study.
  Andrew S. Allen, Susannah T. Bellows, Samuel F. Berkovic, Joshua Bridgers, Rosemary Burgess, Gianpiero L. Cavalleri, Seo-Kyung Chung, Patrick Cossette, Norman Delanty,...> ;The Lancet. Neurology. 2017 Feb 1
• 53 citations
  Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0...
  Silke Appenzeller, Rudi Balling, Nina Barišić, Stéphanie Baulac, Hande Caglayan, Dana Craiu, Peter De Jonghe, Christel Depienne, Petia Dimova, Tania Djémié, Padhraig G...> ;American Journal of Human Genetics. 2017 Jan 5
• 18 citations
  Phenotypic analysis of 303 multiplex families with common epilepsies
  Bassel Abou-Khalil, Zaid Afawi, Andrew S. Allen, Jocelyn F. Bautista, Susannah T. Bellows, Samuel F. Berkovic, Judith Bluvstein, Rosemary Burgess, G. D. Cascino, EJ Co...> ;Brain. 2017 Jan 1
• 12 citations
  Successful Treatment of Electrographic Status Epilepticus of Sleep With Felbamate in a Patient With SLC9A6 Mutation.
  Rohini Coorg, Judith L.Z. Weisenberg> ;Pediatric Neurology. 2015 Dec 1
• 50 citations
  Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy
  Epilepsy Phenome, Andrew S. Allen, Samuel F. Berkovic, Bradley P. Coe, Joseph Cook, Patrick Cossette, Norman Delanty, Dennis J. Dlugos, Evan E. Eichler, Michael P. Eps...> ;Annals of Neurology. 2015 Aug 1
• 5 citations
  Clinical Neurogenetics: Recent Advances in the Genetics of Epilepsy
  Rohini Coorg, Judith L.Z. Weisenberg, Michael Wong> ;Neurologic Clinics. 2013 Nov 1
• 49 citations
  Epilepsy in individuals with neurofibromatosis type 1.
  Adam P. Ostendorf, David H. Gutmann, Judith L.Z. Weisenberg> ;Epilepsia. 2013 Oct 1
• 1026 citations
  De novo mutations in epileptic encephalopathies
  Andrew S. Allen, Samuel F. Berkovic, Patrick Cossette, Norman Delanty, Dennis J. Dlugos, Evan E. Eichler, Michael P. Epstein, Tracy A. Glauser, David Goldstein, Yujun ...> ;Nature. 2013 Sep 12
• 13 citations
  Clinical utility, safety, and tolerability of ezogabine (retigabine) in the treatment of epilepsy.
  Michael A. Ciliberto, Judith L.Z. Weisenberg, Michael Wong> ;Drug, Healthcare and Patient Safety. 2012 Jul 26
• 59 citations
  Impact of epilepsy surgery on seizure control and quality of life: A 26‐year follow‐up study
  Hussan S. Mohammed, Christian B. Kaufman, David D. Limbrick, Karen Steger-May, Robert L. Grubb, Steven M. Rothman, Judith L.Z. Weisenberg, Rebecca Munro, Matthew D. Smyth> ;Epilepsia. 2012 Apr 1
• 18 citations
  Profile of ezogabine (retigabine) and its potential as an adjunctive treatment for patients with partial-onset seizures
  Judith L.Z. Weisenberg, Michael Wong> ;Neuropsychiatric Disease and Treatment. 2011 Jul 7
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