Selected Publications

Academic Article

Year Title Altmetric
2018 Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.American Journal of Human Genetics.  103:1022-1029. 2018
2018 High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complex.Epilepsy Research.  148:1-7. 2018
2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypes.Annals of Neurology.  84:788-795. 2018
2018 Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes.Epilepsy and Behavior.  86:131-137. 2018
2018 Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study.Epilepsy and Behavior2018
2018 Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program results.Epilepsia.  59:1540-1548. 2018
2018 Efficacy and safety of topical rapamycin in patients with facial angiofibromas secondary to tuberous sclerosis complex the TREATMENT randomized clinical trialJAMA Dermatology.  154:773-780. 2018
2018 Systematic reanalysis of genomic data improves quality of variant interpretation.Clinical Genetics.  94:174-178. 2018
2018 Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex.Electromyography and Clinical Neurophysiology.  129:1458-1466. 2018
2018 Affiliate stigma and caregiver burden in intractable epilepsy.Epilepsy and Behavior.  85:1-6. 2018
2018 De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder.Human Genetics.  137:375-388. 2018
2018 Genomic sequencing identifies secondary findings in a cohort of parent study participants.Genetics in Medicine2018
2018 Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosis.PLoS ONE.  13:e0201005. 2018
2018 Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.American Journal of Medical Genetics.  176:925-935. 2018
2018 The effect of everolimus on renal angiomyolipoma in pediatric patients with tuberous sclerosis being treated for subependymal giant cell astrocytoma.Pediatric Nephrology.  33:101-109. 2018
2017 Presentation and Diagnosis of Tuberous Sclerosis Complex in Infants.Pediatrics.  140. 2017
2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.American Journal of Human Genetics.  101:664-685. 2017
2017 The use of cannabidiol for seizure management in patients with brain tumor-related epilepsy.Neurocase.  23:287-291. 2017
2017 Interactions between cannabidiol and commonly used antiepileptic drugs.Epilepsia.  58:1586-1592. 2017
2017 MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamus.PLoS Genetics.  13:e1006957. 2017
2017 Genomic diagnosis for children with intellectual disability and/or developmental delay.Genome Medicine.  9:43. 2017
2017 Neurocutaneous Disorders in Children.Pediatrics in Review.  38:119-128. 2017
2017 Social correlates of health status, quality of life, and mood states in patients treated with cannabidiol for epilepsy.Epilepsy and Behavior.  70:364-369. 2017
2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.American Journal of Human Genetics.  100:117-127. 2017
2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.Neurology Genetics.  2:e120. 2016
2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsy.Neurology Genetics.  2:e118. 2016
2016 Eliciting preferences on secondary findings: the Preferences Instrument for Genomic Secondary Results.Genetics in Medicine.  19:337-344. 2016
2016 Erratum: Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine (American Journal of Human Genetics (2016) 98(6) (1067–1076) (S0002929716301069) (10.1016/j.ajhg.2016.04.011))American Journal of Human Genetics.  99:246. 2016
2016 Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.American Journal of Human Genetics.  98:1051-1066. 2016
2016 Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants.Pediatric Neurology.  54:29-34. 2016
2016 Long-Term Use of Everolimus in Patients with Tuberous Sclerosis Complex: Final Results from the EXIST-1 Study.PLoS ONE.  11:e0158476. 2016
2014 Cannabis, cannabidiol, and epilepsy--from receptors to clinical response.Epilepsy and Behavior.  41:277-282. 2014
2014 Everolimus for subependymal giant cell astrocytoma in patients with tuberous sclerosis complex: 2-year open-label extension of the randomised EXIST-1 study.Lancet Oncology.  15:1513-1520. 2014
2014 The effect of everolimus on renal angiomyolipoma in patients with tuberous sclerosis complex being treated for subependymal giant cell astrocytoma: subgroup results from the randomized, placebo-controlled, Phase 3 trial EXIST-1.Nephrology Dialysis Transplantation.  29:1203-1210. 2014
2014 UBQLN2 mutation causing heterogeneous X-linked dominant neurodegeneration.Annals of Neurology.  75:793-798. 2014
2013 Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.Pediatric Neurology.  49:243-254. 2013
2013 Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference.Pediatric Neurology.  49:255-265. 2013
2013 Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial.Lancet.  381:125-132. 2013
2011 Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopia.Pediatric Neurology.  45:274-278. 2011
2008 Core elements of epilepsy diagnosis and management: expert consensus from the Leadership in Epilepsy, Advocacy, and Development (LEAD) faculty.Current Medical Research and Opinion.  24:3463-3477. 2008
2007 Pharmacokinetics of levetiracetam in infants and young children with epilepsy.Epilepsia.  48:1117-1122. 2007
2006 Vagus nerve stimulation in children less than 5 years old.Child's Nervous System.  22:1167-1169. 2006
2004 Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyria.Epilepsy Research.  62:125-133. 2004
2004 Video-EEG study in an adult and a child with eyelid myoclonia with absences.Epileptic Disorders.  6:287-291. 2004
2004 Cortical reorganization in malformations of cortical development: a magnetoencephalographic study.Neurology.  63:1818-1824. 2004
2004 Chorea as manifestation of epilepsia partialis continua in a child.Pediatric Neurology.  31:126-129. 2004
2003 Complications of chronic vagus nerve stimulation for epilepsy in children.Journal of Neurosurgery.  99:500-503. 2003
2003 Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosis.Archives of Neurology -Chigago-.  60:830-834. 2003
2002 Efficacy and safety of levetiracetam in children with partial seizures: an open-label trial.Epilepsia.  43:518-524. 2002
2002 Long-term tolerability and efficacy of lamotrigine in pediatric patients with epilepsy.Journal of Child Neurology.  17:278-285. 2002
2001 Pharmacokinetic study of levetiracetam in children.Epilepsia.  42:1574-1579. 2001
2001 Histological appearance of a chronically stimulated vagus nerve in a pediatric patient.Pediatric Neurosurgery.  35:99-102. 2001
2000 Efficacy of vagal nerve stimulation in children with medically refractory epilepsy.Neurosurgery.  47:1353-1357. 2000
1999 Ketosis and epilepsy: 31P spectroscopic imaging at 4.1 T.Epilepsia.  40:703-707. 1999
1999 The acute management of seizures.Pediatric Annals.  28:225-229. 1999
1999 Rasmussen's encephalitis with concomitant cortical dysplasia: the role of GluR3.Epilepsia.  40:242-247. 1999
1998 Additional modalities for treating acute seizures in children: overview.Journal of Child Neurology.  13 Suppl 1:S23-S26. 1998
1998 Dystonia with motor delay in compound heterozygotes for GTP-cyclohydrolase I gene mutations.Annals of Neurology.  44:10-16. 1998
1998 Congenital porencephaly: MR features and relationship to hippocampal sclerosis.American Journal of Neuroradiology.  19:135-141. 1998
1998 Management of acute seizures in children: DiscussionJournal of Child Neurology.  13. 1998
1997 Congenital porencephaly and hippocampal sclerosis. Clinical features and epileptic spectrum.Neurology.  49:1382-1388. 1997
1997 Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsy.Annals of Neurology.  42:60-67. 1997
1997 Epilepsy surgery outcome: comprehensive assessment in children.Neurology.  48:1368-1374. 1997
1997 Oral phenylalanine loading in dopa-responsive dystonia: a possible diagnostic test.Neurology.  48:1290-1297. 1997
1997 Supplementary sensorimotor area epilepsy. Seizure localization, cortical propagation and subcortical activation pathways using ictal SPECT.Brain.  120 ( Pt 5):855-864. 1997
1994 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndrome.American Journal of Medical Genetics.  52:97-102. 1994
1993 Surgical treatment for epilepsy in cerebral tuberous sclerosis.Epilepsia.  34:651-657. 1993
1992 Bilateral periodic lateralized epileptiform discharges in Mycoplasma encephalitis.Pediatric Neurology.  8:292-294. 1992
1990 Morphometric studies in dominant olivopontocerebellar atrophy. Comparison of cell losses with amino acid decreases.Archives of Neurology -Chigago-.  47:188-192. 1990
1988 Prognosis in Sturge-Weber disease: comparison of unihemispheric and bihemispheric involvement.Journal of Child Neurology.  3:181-184. 1988

Research Overview

  • Tuberous Sclerosis Complex
    Genetics of Epilepsy
    Biomarkers for Tuberous Sclerosis Complex
  • Principal Investigator On

  • Private Grant  awarded by LUNDBECK LLC 2016 - 2021
  • Preventing Epilepsy using Vigabatrin in Infants with Tuberous Sclerosis Complex  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2016 - 2021
  • Human Epilepsy Project  awarded by THE EPILEPSY STUDY CONSORTIUM 2013 - 2020
  • Private Grant  awarded by GW RESEARCH LTD. 2016 - 2020
  • Early Biomarkers of Autism Spectrum Disorders in Infants with Tuberous Sclerosis Complex (Enrollment Costs)  awarded by CHILDREN'S HOSPITAL (BOSTON) 2012 - 2019
  • Early Biomarkers of Autism Spectrum Disorders in Infants with Tuberous Sclerosis Complex (Fixed Costs)  awarded by CHILDREN'S HOSPITAL (BOSTON) 2012 - 2019
  • Developmental Synaptopathies Associated with TSC, PTEN, and Shank3 Mutations  awarded by CHILDREN'S HOSPITAL (BOSTON) 2014 - 2019
  • Retrospective Vigabatrin- Related Treatment Data Survey  awarded by Tuberous Sclerosis Alliance 2018 - 2019
  • Private Grant  awarded by GW RESEARCH LTD. 2014 - 2018
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2013 - 2018
  • Genomic Diagnosis in Children with Developmental Delay: South-seq: DNA Sequencing for Newborn Nurseries in the South  awarded by HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY 2013 - 2017
  • Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC  awarded by National Institute of Neurological Disorders and Stroke/NIH/DHHS 2012 - 2016
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2011 - 2015
  • Topical Rapamycin to Erase Angiofibromas in TSC - Multicenter Evaluation of Novel Therapy (The TREATMENT Study)  awarded by UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER (HOUSTON) 2012 - 2015
  • Private Grant  awarded by NOVARTIS PHARMACEUTICALS CORPORATION 2011 - 2014
  • TSC Autism Center of Excellence Research Network (TACERN) Research  awarded by CHILDREN'S HOSPITAL (BOSTON) 2012 - 2014
  • The Epilepsy Phenome/Genome Project  awarded by University of California, San Francisco 2011 - 2012
  • Private Grant  awarded by OVATION PHARMACEUTICALS, INC. 2008 - 2012
  • Private Grant  awarded by OVATION PHARMACEUTICALS, INC. 2007 - 2011
  • TSC Sclerosis Alliance  awarded by Tuberous Sclerosis Alliance 2008 - 2011
  • Investigator On

    Education And Training

  • Doctor of Medicine, University of Mississippi
  • Mayo Clinic, Internship 1987
  • Mayo Clinic, Residency 1991
  • University of Virginia Hospital, Postdoctoral Fellowship 1992
  • Full Name

  • Martina Bebin
  • Blazerid

  • ebebin