Positions

Overview

  • Dr. Bebin has been involved in the clinical care of patients with Tuberous Sclerosis Complex since her child neurology
    fellowship training with Dr. Manuel Gomez at the Mayo Clinic. Since 2007, she have been the co-director of the
    UAB TSC Clinic and lead the development of the comprehensive multidisciplinary Tuberous Sclerosis Clinic at UAB that provides medical care for TSC patients throughout their life. The Clinic incorporates 26 subspecialties across the Children’s of Alabama Health System and the University of Alabama at Birmingham School of Medicine. The clinic is the largest in the Southeast and has been designated at a TSC Center of Excellence by the TS Alliance. The UAB TSC Clinic has been active in a variety of DOD-CDMRP TSC, NIH funded efforts and Phase III clinical trials. I was the administrative PI for the NIH P20-NS0801999 (Potential EEG Biomarkers and Antiepileptogenic Strategies for Epilepsy in TSC) study, which was completed in August 2016. The results of this research initiative provided the foundation and objectives for the Preventing Epilepsy Using Vigabatrin in Infants with Tuberous Sclerosis Complex (PREVeNT Trial) (U01NS092595) grant proposal. For the past 20 years, Dr. Bebin has also been involved in clinical drug development and served as site PI for numerous pediatric antiepileptic clinical trials and was the director of the Pediatric Expanded Access Program for Cannabidiol in the State of Alabama. More recently, she has been involved in whole genome sequencing projects with HudsonAlpha Institute of Biotechnology and UAB Department of Genetics in children with unexplained developmental delays and various epilepsies. Since 2009, she has served on the DOD-CDMRP grant review program for TSC and on the FDA Orphan Product Development Grant Review Panel since 2011.
  • Selected Publications

    Academic Article

    Year Title Altmetric
    2021 Tuber Locations Associated with Infantile Spasms Map to a Common Brain NetworkAnnals of Neurology2021
    2020 Epilepsy Risk Prediction Model for Patients With Tuberous Sclerosis ComplexPediatric Neurology.  113:46-50. 2020
    2020 Cannabidiol normalizes resting-state functional connectivity in treatment-resistant epilepsyEpilepsy and Behavior.  112. 2020
    2020 Effects of highly purified cannabidiol (CBD) on fMRI of working memory in treatment-resistant epilepsyEpilepsy and Behavior.  112. 2020
    2020 Epilepsy and Electroencephalographic Abnormalities in SATB2-Associated SyndromePediatric Neurology.  112:94-100. 2020
    2020 A second cohort of CHD3 patients expands the molecular mechanisms known to cause Snijders Blok-Campeau syndromeEuropean Journal of Human Genetics.  28:1422-1431. 2020
    2020 Cognitive function and adaptive skills after a one-year trial of cannabidiol (CBD) in a pediatric sample with treatment-resistant epilepsyEpilepsy and Behavior.  111. 2020
    2020 Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis.Neurology Genetics.  6:e476. 2020
    2020 Pilot Study of Neurodevelopmental Impact of Early Epilepsy Surgery in Tuberous Sclerosis ComplexPediatric Neurology.  109:39-46. 2020
    2020 Defining the phenotype of FHF1 developmental and epileptic encephalopathyEpilepsia.  61:e71-e78. 2020
    2020 Epilepsy and Neurodevelopmental Comorbidities in Tuberous Sclerosis Complex: A Natural History StudyPediatric Neurology.  106:10-16. 2020
    2020 Deep learning in rare disease. Detection of tubers in tuberous sclerosis complexPLoS ONE.  15. 2020
    2020 Modifying genetic epilepsies – Results from studies on tuberous sclerosis complexNeuropharmacology.  166. 2020
    2020 Response: Letter to the Editor - Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyEpilepsia.  61:824. 2020
    2020 EEG Spectral Features in Sleep of Autism Spectrum Disorders in Children with Tuberous Sclerosis ComplexJournal of Autism and Developmental Disorders.  50:916-923. 2020
    2020 Language predictors of autism spectrum disorder in young children with tuberous sclerosis complexEpilepsy and Behavior.  103. 2020
    2020 A state-based approach to genomics for rare disease and population screeningGenetics in Medicine2020
    2020 Add-On Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical TrialJAMA Neurology2020
    2019 Early white matter development is abnormal in tuberous sclerosis complex patients who develop autism spectrum disorderJournal of Neurodevelopmental Disorders.  11. 2019
    2019 Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational studyEpilepsia.  60:2428-2436. 2019
    2019 Resting-State fMRI Networks in Children with Tuberous Sclerosis ComplexJournal of Neuroimaging.  29:750-759. 2019
    2019 Drug–drug interactions with cannabidiol (CBD) appear to have no effect on treatment response in an open-label Expanded Access ProgramEpilepsy and Behavior.  98:201-206. 2019
    2019 Cognitive functioning following long-term cannabidiol use in adults with treatment-resistant epilepsyEpilepsy and Behavior.  97:105-110. 2019
    2019 Long-term safety and efficacy of cannabidiol in children and adults with treatmentresistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program resultsEpilepsy Research.  154:13-20. 2019
    2019 Reproducibility of structural and diffusion tensor imaging in the TACERN multi-center studyFrontiers in Integrative Neuroscience.  13. 2019
    2019 Tuberous Sclerosis Complex Genotypes and Developmental PhenotypePediatric Neurology.  96:58-63. 2019
    2019 fMRI study of cannabidiol-induced changes in attention control in treatment-resistant epilepsyEpilepsy and Behavior.  96:114-121. 2019
    2019 Higher cannabidiol plasma levels are associated with better seizure response following treatment with a pharmaceutical grade cannabidiolEpilepsy and Behavior.  95:131-136. 2019
    2019 Quality of life in adults enrolled in an open-label study of cannabidiol (CBD) for treatment-resistant epilepsyEpilepsy and Behavior.  95:10-17. 2019
    2019 Deleterious Variation in BRSK2 Associates with a Neurodevelopmental DisorderAmerican Journal of Human Genetics.  104:701-708. 2019
    2019 Impacting development in infants with tuberous sclerosis complex: Multidisciplinary research collaborationAmerican Psychologist.  74:356-367. 2019
    2019 Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complexEpilepsia.  60:1721-1732. 2019
    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 interpretation 2018
    2018 Visual and semi-automatic non-invasive detection of interictal fast ripples: A potential biomarker of epilepsy in children with tuberous sclerosis complex 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 syndrome 2018
    2018 Cannabidiol improves frequency and severity of seizures and reduces adverse events in an open-label add-on prospective study Pongkiat Kankirawatana, Dr Rani Singh, Professor David G Standaert, Dr Yuliang Liu, Dr Leon Dure, Dr Jennifer DeWollfe, Professor Gary Cutter, Dr Tyler Gaston, Dr Ashley Thomas, Professor E. Martina Bebin, Dr. Lawrence Ver HoefEpilepsy and Behavior.  (in press). 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 delay 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 study 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 trial 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 absences 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.  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 seizures 1999
    1998 Dystonia with motor delay in compound heterozygotes for GTP- cyclohydrolase I gene mutationsAnnals of Neurology.  44:10-16. 1998
    1998 Additional modalities for treating acute seizures in children: OverviewJournal of Child Neurology.  13. 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 SPECT 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 syndrome 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.  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
  • Principal Investigator On

  • Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations (Cost Reimbursable)  awarded by BOSTON CHILDREN'S HOSPITAL 2019 - 2024
  • Developmental Synaptopathies Associated with TSC, PTEN and SHANK3 Mutations (TSC; Enrollment)  awarded by BOSTON CHILDREN'S HOSPITAL 2019 - 2024
  • TSC Biosample Repository and Natural History Database Contract  awarded by Tuberous Sclerosis Alliance 2021
  • 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
  • Private Grant  awarded by GW RESEARCH LTD. 2016 - 2021
  • Private Grant  awarded by NATIONAL TUBEROUS SCLEROSIS ASSOCIATION INC. 2019 - 2020
  • TS Alliance TSC Biosample Repository  awarded by Tuberous Sclerosis Alliance 2018 - 2020
  • TS Alliance: Clinical Research Consortium  awarded by BOSTON CHILDREN'S HOSPITAL 2019 - 2020
  • Human Epilepsy Project  awarded by THE EPILEPSY STUDY CONSORTIUM 2013 - 2020
  • Developmental Synaptopathies Associated with TSC, PTEN, and Shank3 Mutations  awarded by CHILDREN'S HOSPITAL (BOSTON) 2014 - 2019
  • 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
  • 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
  • Teaching Overview

  • 1997-1998-University of Alabama at Birmingham Graduate Neuroscience Course
    1994-1998-Clinical teaching to medical students, pediatric residents on Pediatric Neurology rotation, Neurology residents and Epilepsy fellows from UAB
    1998-2004-Clinical teaching of third and fourth year medical students during pediatric rotation, and Family Medicine Residents at the UAB Huntsville campus
    2006-present Clinical teaching of UAB Neurology and Pediatric Residents and Epilepsy Fellows, Genetics Fellows and Genetic Counselors
  • Education And Training

  • Doctor of Medicine, University of Mississippi 1986
  • Mayo Clinic Pediatrics and Neurology, Residency 1991
  • University of Virginia Hospital Neurology-Epilepsy Division, Postdoctoral Fellowship 1992
  • Full Name

  • Martina Bebin