Positions

Selected Publications

Academic Article

Year Title Altmetric
2018 Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic EpilepsiesAmerican Journal of Human Genetics.  103:1022-1029. 2018
2018 Genomic sequencing identifies secondary findings in a cohort of parent study participantsGenetics in Medicine.  20:1635-1643. 2018
2018 High vigabatrin dosage is associated with lower risk of infantile spasms relapse among children with tuberous sclerosis complexEpilepsy Research.  148:1-7. 2018
2018 NBEA: Developmental disease gene with early generalized epilepsy phenotypesAnnals of Neurology.  84:788-795. 2018
2018 Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective studyEpilepsy and Behavior.  87:131-136. 2018
2018 Angiomyolipoma rebound tumor growth after discontinuation of everolimus in patients with tuberous sclerosis complex or sporadic lymphangioleiomyomatosisPLoS ONE.  13. 2018
2018 Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromesEpilepsy and Behavior.  86:131-137. 2018
2018 Affiliate stigma and caregiver burden in intractable epilepsyEpilepsy and Behavior.  85:1-6. 2018
2018 Long-term safety and treatment effects of cannabidiol in children and adults with treatment-resistant epilepsies: Expanded access program resultsEpilepsia.  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 interpretationClinical 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 complexElectromyography and Clinical Neurophysiology.  129:1458-1466. 2018
2018 De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorderHuman Genetics.  137:375-388. 2018
2018 Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndromeAmerican 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 astrocytomaPediatric Nephrology.  33:101-109. 2018
2017 Presentation and diagnosis of tuberous sclerosis complex in infantsPediatrics.  140. 2017
2017 High Rate of Recurrent De Novo Mutations in Developmental and Epileptic EncephalopathiesAmerican Journal of Human Genetics.  101:664-685. 2017
2017 The use of cannabidiol for seizure management in patients with brain tumor-related epilepsyNeurocase.  23:287-291. 2017
2017 Interactions between cannabidiol and commonly used antiepileptic drugsEpilepsia.  58:1586-1592. 2017
2017 MYT1L mutations cause intellectual disability and variable obesity by dysregulating gene expression and development of the neuroendocrine hypothalamusPLoS Genetics.  13. 2017
2017 Genomic diagnosis for children with intellectual disability and/or developmental delayGenome Medicine.  9. 2017
2017 Social correlates of health status, quality of life, and mood states in patients treated with cannabidiol for epilepsyEpilepsy and Behavior.  70:364-369. 2017
2017 Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary ResultsGenetics in Medicine.  19:337-344. 2017
2017 Neurocutaneous disorders in childrenPediatrics in Review.  38:119-128. 2017
2017 Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial DysmorphismAmerican Journal of Human Genetics.  100:117-127. 2017
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 MedicineAmerican Journal of Human Genetics.  98:1051-1066. 2016
2016 Long-term use of everolimus in patients with tuberous sclerosis complex: Final results from the EXIST-1 studyPLoS ONE.  11. 2016
2016 Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex InfantsPediatric Neurology.  54:29-34. 2016
2016 De novo FGF12 mutation in 2 patients with neonatal-onset epilepsyNeurology Genetics.  2. 2016
2016 Germline and somatic mutations in the MTOR gene in focal cortical dysplasia and epilepsyNeurology Genetics.  2. 2016
2014 Cannabis, cannabidiol, and epilepsy - From receptors to clinical responseEpilepsy 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 studyLancet 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-1Nephrology Dialysis Transplantation.  29:1203-1210. 2014
2014 UBQLN2 mutation causing heterogeneous X-linked dominant neurodegenerationAnnals of Neurology.  75:793-798. 2014
2013 Tuberous sclerosis complex diagnostic criteria update: Recommendations of the 2012 international tuberous sclerosis complex consensus conferencePediatric Neurology.  49:243-254. 2013
2013 Tuberous sclerosis complex surveillance and management: Recommendations of the 2012 international tuberous sclerosis complex consensus conferencePediatric 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 trialLancet.  381:125-132. 2013
2011 Monosomy1p36.3 and trisomy 19p13.3 in a child with periventricular nodular heterotopiaPediatric Neurology.  45:274-278. 2011
2008 Core elements of epilepsy diagnosis and management: Expert consensus from the Leadership in Epilepsy, Advocacy, and Development (LEAD) facultyCurrent Medical Research and Opinion.  24:3463-3477. 2008
2007 Pharmacokinetics of levetiracetam in infants and young children with epilepsyEpilepsia.  48:1117-1122. 2007
2006 Vagus nerve stimulation in children less than 5 years oldChild's Nervous System.  22:1167-1169. 2006
2004 Electroclinical and magnetoencephalographic studies in epilepsy patients with polymicrogyriaEpilepsy Research.  62:125-133. 2004
2004 Video-EEG study in an adult and a child with eyelid myoclonia with absencesEpileptic Disorders.  6:287-291. 2004
2004 Cortical reorganization in malformations of cortical development: A magnetoencephalographic studyNeurology.  63:1818-1824. 2004
2004 Chorea as manifestation of epilepsia partialis continua in a childPediatric Neurology.  31:126-129. 2004
2003 Complications of chronic vagus nerve stimulation for epilepsy in childrenJournal of Neurosurgery.  99:500-503. 2003
2003 Temporal lobectomy in congenital porencephaly associated with hippocampal sclerosisArchives of Neurology -Chigago-.  60:830-834. 2003
2002 Efficacy and safety of levetiracetam in children with partial seizures: An open-label trialEpilepsia.  43:518-524. 2002
2002 Long-term tolerability and efficacy of lamotrigine in pediatic patients with epilepsyJournal of Child Neurology.  17:278-285. 2002
2001 Pharmacokinetic study of levetiracetam in childrenEpilepsia.  42:1574-1579. 2001
2001 Histological appearance of a chronically stimulated vagus nerve in a pediatric patientPediatric Neurosurgery.  35:99-102. 2001
2000 Efficacy of vagal nerve stimulation in children with medically refractory epilepsyNeurosurgery.  47:1353-1358. 2000
1999 Ketosis and epilepsy: 31P spectroscopic imaging at 4.1 TEpilepsia.  40:703-707. 1999
1999 Rasmussen's encephalitis with concomitant cortical dysplasia: The role of GluR3Epilepsia.  40:242-247. 1999
1999 The acute management of seizuresPediatric Annals.  28:225-229. 1999
1998 Additional modalities for treating acute seizures in children: OverviewJournal of Child Neurology.  13. 1998
1998 Dystonia with motor delay in compound heterozygotes for GTP- cyclohydrolase I gene mutationsAnnals of Neurology.  44:10-16. 1998
1998 Congenital porencephaly: MR features and relationship to hippocampal sclerosisAmerican Journal of Neuroradiology.  19:135-141. 1998
1998 Management of acute seizures in children: DiscussionJournal of Child Neurology.  13. 1998
1997 Intrinsic epileptogenesis of hypothalamic hamartomas in gelastic epilepsyAnnals of Neurology.  42:60-67. 1997
1997 Supplementary sensorimotor area epilepsy. Seizure localization, cortical propagation and subcortical activation pathways using ictal SPECTBrain.  120:855-864. 1997
1997 Congenital porencephaly and hippocampal sclerosis: Clinical features and epileptic spectrumNeurology.  49:1382-1388. 1997
1997 Epilepsy surgery outcome: Comprehensive assessment in childrenNeurology.  48:1368-1374. 1997
1997 Oral phenylalanine loading in dopa-responsive dystonia: A possible diagnostic testNeurology.  48:1290-1297. 1997
1994 Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (L-CHAD) deficiency in a patient with the Bannayan-Riley-Ruvalcaba syndromeAmerican Journal of Medical Genetics.  52:97-102. 1994
1993 Surgical Treatment for Epilepsy in Cerebral Tuberous SclerosisEpilepsia.  34:651-657. 1993
1992 Bilateral periodic lateralized epileptiform discharges in Mycoplasma encephalitisPediatric Neurology.  8:292-294. 1992
1990 Morphometric Studies in Dominant Olivopontocerebellar Atrophy: Comparison of Cell Losses With Amino Acid DecreasesArchives of Neurology -Chigago-.  47:188-192. 1990
1988 Prognosis in Sturge-Weber Disease: Comparison of Unihemispheric and Bihemispheric InvolvementJournal of Child Neurology.  3:181-184. 1988

Research Overview

  • Tuberous Sclerosis Complex
    Genetics of Epilepsy
    Biomarkers for Tuberous Sclerosis Complex
  • Education And Training

  • Doctor of Medicine, University of Mississippi 1986
  • Mayo Clinic, Internship 1987
  • Mayo Clinic, Residency 1991
  • University of Virginia Hospital, Postdoctoral Fellowship 1992
  • Full Name

  • Martina Bebin