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Author Details

Elizabeth Martina Bebin
University of Alabama at Birmingham
1988
113
39
PMIDPaper TitleJournal TitlePublished Year
38081750Reply to "Chance Bias Arising from TSC2 Mutation Imbalance in the PREVeNT Trial".Ann Neurol2024
36539302Mood and Anxiety Disorders and Suicidality in Patients With Newly Diagnosed Focal Epilepsy: An Analysis of a Complex Comorbidity.Neurology2023
37593907Final analysis of potential drug-drug interactions between highly purified cannabidiol and anti-seizure medications in an open-label expanded access program.Epilepsia Open2023
37953635Commentary Regarding the Results of the PREVeNT and EPISTOP Trials.Ann Neurol2023
37638552Early Treatment with Vigabatrin Does Not Decrease Focal Seizures or Improve Cognition in Tuberous Sclerosis Complex: The PREVeNT Trial.Ann Neurol2023
37119787Epilepsy Severity Is Associated With Head Circumference and Growth Rate in Infants With Tuberous Sclerosis Complex.Pediatr Neurol2023
37185208<i>ARF1</i>-related disorder: phenotypic and molecular spectrum.J Med Genet2023
37243404Efficacy of cannabidiol in convulsive and nonconvulsive seizure types associated with treatment-resistant epilepsies in the Expanded Access Program.Epilepsia2023
37161864Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.Genet Med2023
36711854Poison exon annotations improve the yield of clinically relevant variants in genomic diagnostic testing.bioRxiv2023
34957550Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial.Epilepsia2022
35346573Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.Genet Med2022
35729081Limited utility of structural MRI to identify the epileptogenic zone in young children with tuberous sclerosis.J Neuroimaging2022
35074918Disruption of MeCP2-TCF20 complex underlies distinct neurodevelopmental disorders.Proc Natl Acad Sci U S A2022
33410532Tuber Locations Associated with Infantile Spasms Map to a Common Brain Network.Ann Neurol2021
33909992Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism.Am J Hum Genet2021
33843487The Therapeutic Odyssey: Positioning Genomic Sequencing in the Search for a Child's Best Possible Life.AJOB Empir Bioeth2021
33725662White matter integrity after cannabidiol administration for treatment resistant epilepsy.Epilepsy Res2021
34668231Profile of Autism Spectrum Disorder in Tuberous Sclerosis Complex: Results from a Longitudinal, Prospective, Multisite Study.Ann Neurol2021
34464454Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy.Clin Pharmacol Ther2021
34399110Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations.Pediatr Neurol2021
34273739Longitudinal impact of cannabidiol on EEG measures in subjects with treatment-resistant epilepsy.Epilepsy Behav2021
33937879Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.HGG Adv2021
34270884Antiepileptogenesis and disease modification: Clinical and regulatory issues.Epilepsia Open2021
33961779Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.Am J Hum Genet2021
34343869Epilepsy Is Heterogeneous in Early-Life Tuberous Sclerosis Complex.Pediatr Neurol2021
32483341A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndrome.Eur J Hum Genet2020
31962286Modifying genetic epilepsies - Results from studies on tuberous sclerosis complex.Neuropharmacology2020
31864941Language predictors of autism spectrum disorder in young children with tuberous sclerosis complex.Epilepsy Behav2020
32745959Cannabidiol normalizes resting-state functional connectivity in treatment-resistant epilepsy.Epilepsy Behav2020
32802946<i>Fibulin-5</i> mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.Neurol Genet2020
32759071Cognitive function and adaptive skills after a one-year trial of cannabidiol (CBD) in a pediatric sample with treatment-resistant epilepsy.Epilepsy Behav2020
32645220Defining the phenotype of FHF1 developmental and epileptic encephalopathy.Epilepsia2020
32446642Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated Syndrome.Pediatr Neurol2020
32418847Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis Complex.Pediatr Neurol2020
32133629Response: Letter to the Editor - Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.Epilepsia2020
32348367Deep learning in rare disease. Detection of tubers in tuberous sclerosis complex.PLoS One2020
31048098Higher cannabidiol plasma levels are associated with better seizure response following treatment with a pharmaceutical grade cannabidiol.Epilepsy Behav2019
31691264Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study.Epilepsia2019
31297797Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex.Epilepsia2019
31304656Resting-State fMRI Networks in Children with Tuberous Sclerosis Complex.J Neuroimaging2019
31417372Reproducibility of Structural and Diffusion Tensor Imaging in the TACERN Multi-Center Study.Front Integr Neurosci2019
31129526fMRI study of cannabidiol-induced changes in attention control in treatment-resistant epilepsy.Epilepsy Behav2019
30945897Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaboration.Am Psychol2019
31003195Quality of life in adults enrolled in an open-label study of cannabidiol (CBD) for treatment-resistant epilepsy.Epilepsy Behav2019
31022635Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results.Epilepsy Res2019
28993887The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.Pediatr Nephrol2018
30192751Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.PLoS One2018
29998598Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.Epilepsia2018
30100226Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.Epilepsy Behav2018
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Collaborators

Jerzy P Szaflarski
University of Alabama at Birmingham (UAB)
Co-authored papers 20
Mustafa Sahin
Harvard Medical School
Co-authored papers 19
Gregory M Cooper
HudsonAlpha Institute for Biotechnology
Co-authored papers 19
Susan M Hiatt
HudsonAlpha Institute for Biotechnology
Co-authored papers 13
Kevin M Bowling
Washington University School of Medicine
Co-authored papers 12
Gary Cutter
University of Alabama at Birmingham
Co-authored papers 8
Gregory S Barsh
HudsonAlpha Institute for Biotechnology, Stanford University
Co-authored papers 7
Richard M Myers
HudsonAlpha Institute for Biotechnology
Co-authored papers 7
Whitley V Kelley
HudsonAlpha Institute for Biotechnology
Co-authored papers 7
Edward J Lose
The University of Alabama at Birmingham School of Medicine
Co-authored papers 6
Simon K Warfield
Boston Children's Hospital
Co-authored papers 5
Carla A Rich
Norton Children's Research Institute, University of Louisville School of Medicine
Co-authored papers 5
Kelly M East
HudsonAlpha Institute for Biotechnology
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Kyle B Brothers
Norton Children's Research Institute Affiliated with the University of Louisville
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Wendy K Chung
Boston Children's Hospital, Harvard Medical School
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Shirley Simmons
HudsonAlpha Institute for Biotechnology
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Anna C E Hurst
Co-authored papers 4
Orrin Devinsky
New York University Langone Medical Center
Co-authored papers 4
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 3
Rodolphe Nenert
University of Alabama at Birmingham (UAB)
Co-authored papers 3
Anup D Patel
Center for Clinical Excellence, Nationwide Children's Hospital
Co-authored papers 3
Jane B Allendorfer
University of Alabama at Birmingham
Co-authored papers 3
Tracy A Glauser
Cincinnati Children's Hospital Medical Center
Co-authored papers 3
Marco Tartaglia
Co-authored papers 3
Olaf Witt
Hopp Children's Cancer Center Heidelberg (KiTZ)
Co-authored papers 3
Magdalena Szaflarski
University of Alabama at Birmingham
Co-authored papers 3
Paul S Horn
Cincinnati Children's Hospital Medical Center
Co-authored papers 3
Howard L Weiner
Co-authored papers 3
Ingrid E Scheffer
Co-authored papers 3
David G Standaert
University of Alabama at Birmingham
Co-authored papers 2
Release 1.2