Dravet Syndrome Foundation’s Scientific Advisory Board oversees the organization’s research activities. They review and approve all research grant applications and meet annually with other interested researchers and scientists to discuss innovative and promising research in the field of Dravet syndrome and associated epilepsies at DSF’s Research Roundtable
Jack Parent, MD, University of Michigan Medical Center
Jack M. Parent, M.D., is a professor of neurology, director of the Neurodevelopment and Regeneration Laboratory, and co-director of the Comprehensive Epilepsy Center in the University of Michigan Medical School. His current research interests include modeling severe childhood epilepsies with patient-derived cells using induced pluripotent stem cells, neural stem cell transplantation to treat brain injury and neurodegeneration, and the modification of adult neural stem cells to promote brain repair after stroke or to prevent epilepsy.
Dr. Parent earned a Bachelor of Arts degree, with distinction, in human biology from Stanford University and his medical degree from the Yale University School of Medicine. He completed a medical internship and neurology residency at the University of California, San Francisco (UCSF), where he was selected chief resident. He stayed at UCSF for clinical fellowship training in epilepsy and clinical neurophysiology, and postdoctoral training in neuroscience research. An internationally recognized research leader in the fields of neural stem cell biology, regeneration after brain injury and epilepsy, Dr. Parent established the Neurodevelopment and Regeneration Laboratory at the U-M in 2000.
Dr. Parent serves on the Board of Directors of the American Epilepsy Society and as Secretary of the American Neurological Association, and is a member of the Epilepsy Foundation of America Research Council, the Medical Advisory Board of the Global Ischemia Foundation, and the Independent Scienctific Review Panel of the New Jersey Commission on Brain Injury Research. He is also Epilepsy Section Editor of Experimental Neurology. Associate Editor for Basic Science of Epilepsy Currents, Associate Editor of Frontiers in Neurogenesis, and is on the editorial boards of Brain Plasticity and Stem Cells International. He has received several awards for his research, including a Paul Beeson Physician Faculty Scholars in Aging Award, a Dreifuss-Penry Epilepsy Award from the American Academy of Neurology, and a Grass Foundation Award in Neuroscience from the American Neurological Association
Scott Baraban, PhD, University of California San Francisco
Scott Baraban, PhD, is a Professor in Residence of Neurological Surgery at the University of California, San Francisco (UCSF) and a William K Bowes. Jr. Endowed Chair in Neuroscience Research. He is a Faculty Member for the PIBS Graduate Program in Neuroscience; the Biomedical Sciences Graduate program; and the Eli & Edythe Broad Center of Regeneration Medicine and Stem Cell Research. Dr. Baraban’s laboratory has active research projects on epilepsy associated with a malformed brain; epilepsy and drug discovery in pediatric models of epilepsy in zebrafish; and development of cell based epilepsy therapy using inhibitory neural progenitor cells.
Education, Training, and Previous Positions
1987: BA, Johns Hopkins University
1994: PhD, University of Virginia
1994-1997: Postdoctoral Fellow, University of Washington, Department of Neurological Surgery
1996-1997: Postdoctoral Fellow, University of Washington, Howard Hughes Medical Institute
1997-1999: Assistant Professor, Case Western Reserve University, Departments of Pediatrics (primary appointment) and Neuroscience (secondary appointment)
1999-Present: Department of Neurological Surgery, UCSF
Selected Professional Memberships and Appointments
Society for Neuroscience
American Epilepsy Society
Selected Honors and Awards
1995: American Epilepsy Society and Milken Family Foundation, Postdoctoral Research Fellowship
1998: Epilepsy Foundation of America, Junior Investigator Research Award
1999: March of Dimes Foundation, Basil O’Connor Starter Scholar Award
2000: Sandler Family Supporting Foundation, UCSF Innovation in Basic Science Award
2001: Symposium Faculty, 21st Merritt-Putnam Symposium (Epilepsy and Disorders of Brain Development)
2003: Esther and Joseph Klingenstein Fund, Fellowship Award in Neuroscience
Selected Recent Publications
- Cobos I, Calcagnotto ME, Vilaythong AJ, Thwin MT, Noebels JL, Baraban SC, Rubenstein JL (2005) Mice lacking Dlx1 show subtype-specific loss of interneurons, reduced inhibition and epilepsy. Nature Neuroscience 8, 1059-1068.
- Calcagnotto ME, Paredes MF, Tihan T, Barbaro NM, Baraban SC (2005) Dysfunction of synaptic inhibition in epilepsy associated with focal cortical dysplasia. Journal of Neuroscience 25, 9649-9657.
- Alvarez-Dolado M, Calcagnotto ME, Karkar KM, Southwell DG, Jones-Davis DM, Estrada RC, Rubenstein JL, Alvarez-Buylla A, Baraban SC (2006) Cortical inhibition modified by embryonic neural precursors grafted into the postnatal brain. Journal of Neuroscience 26, 7380-7389.
- Greenwood JSF, Wang Y, Estrada RC, Ackerman L, Ohara PT, Baraban SC (2009) Seizures, enhanced excitation and increased vesicle number in Lis1 mutant mice. Annals of Neurology 66, 644-653.
- Baraban SC, Southwell DG, Estrada RC, Jones DL, Sebe JY, Verdugo-Garcia JMG, Rubenstein JLR, Alvarez-Buylla A (2009) Reduction of seizures by transplantation of cortical GABAergic precursors into Kv1.1 mutant mice. Proceedings of the National Academy of Sciences USA 106, 15472-15477.
- Hortopan GA, Dinday MT, Baraban SC (2010) Spontaneous seizures and altered gene expression in GABA signaling pathways in a mind bomb mutant zebrafish. Journal of Neuroscience30, 13718-13728.
Lori Isom, PhD, University of Michigan Medical Center
Dr. Isom received her PhD in Pharmacology at Vanderbilt University School of Medicine in 1987. She completed a postdoctoral fellowship in the laboratory of Dr. William A. Catterall at the University of Washington Department of Pharmacology in 1993 and was subsequently promoted to Lecturer in Pharmacology.
Dr. Isom’s postdoctoral research included the first cloning, sequencing, and expression of voltage-gated sodium channel SCN1B and SCN2B, encoding β1 and β2 subunits, respectively. Dr. Isom began her independent laboratory research program at the University of Michigan Department of Pharmacology in 1995 as an Assistant Professor. She was promoted to Associate Professor with tenure in 2001 and then to full Professor in 2007. She received a secondary appointment as Professor of Molecular and Integrative Physiology in 2009 and was promoted to Assistant Dean for Graduate Education in 2010.
Dr. Isom’s research program focuses on voltage-gated sodium channel structure, function, and role in inherited disease. Her laboratory employs a variety of techniques, including cellular and molecular biology, genetics, and electrophysiology. Highlights of Dr. Isom’s research program at the University of Michigan include the discovery that sodium channel β subunits, in addition to functioning as ion channel modulators, are multifunctional cell adhesion molecules of the immunoglobulin superfamily that regulate neuronal migration, pathfinding, and fasciculation. She reported the first mutation in SCN1B linked to Dravet Syndrome in 2009 and is currently collaborating with Dr. Jack Parent and Dr. Miriam Meisler to investigate SCN1A and SCN1B Dravet Syndrome mutations in human induced pluripotent stem cell (iPSC) neurons and cardiac myocytes.
In addition to her research activities, Dr. Isom has served as the Director of the University of Michigan Program in Biomedical Sciences since 2008. She was recently promoted to Assistant Dean of Graduate Recruitment and Pre-candidate Education in the Medical School. Dr. Isom has served on a number of grant study sections and external review committees and is currently a member of the editorial board of the Journal of Biological Chemistry.
Sookyong Koh, MD, PhD, Ann & Robert H. Lurie Children’s Hospital
Dr. Koh is a pediatric neurologist with a clinical and research specialization in epilepsy. She is an Attending Physician of Neurology and Epilepsy, an Associated Professor of Pediatrics at the Northwestern University Feinberg School of Medicine and a Director of Neurobiology Program at the Lurie Children’s Research Center. Her research is focused on understanding the progressive disease processes and brain damage that devastate many children with epilepsy.
American Epilepsy Society, Child Neurology Society, American Academy of Neurology, Society for Neuroscience
Linda Laux, MD, Ann & Robert H. Lurie Children’s Hospital
Dr. Laux is an Attending Physician in the Neurology and Epilepsy Center of the Ann & Robert H. Lurie Children’s Hospital, as well as an Assistant Professor of Pediatrics at Northwestern University Feinberg School of Medicine. Her special interests include pediatric epilepsy and Dravet syndrome.
2001: Fellowship in pediatric epilepsy, Children’s Memorial Hospital
1994-97: Fellowship in neurology/child neurology, Barrow’s Neurologic Institute/St. Joseph’s Hospital, Phoenix, AZ,
1990-93: Residency in pediatrics, University of Arizona Health Science Center
1990: St. Louis University
Board certified in Neurology with special qualifications in Child Neurology
Neurology with special qualifications in Clinical Neurophysiology
American Epilepsy Society
American Clinical Neurophysiology Society
Child Neurology Society
Miriam Meisler, PhD, University of Michigan Medical Center
Dr Meisler’s laboratory is studying neurological disease mutations in genes encoding human voltage- gated sodium channels and phosphoinositide metabolism. To examine the molecular mechanisms of pathogenesis, we generate mouse models of specific human mutations. We are screening patient populations to identify new disease mutations. In related projects, we are cloning several new mouse mutants, using genomic tools including human/mouse genomic sequence comparisons to identify noncoding regulatory sequences.
1968: Ph. D. Ohio State University, Biological Chemistry
1963: B. A. Queens College, CUNY. B. A., Chemistry and Biology
Honors and Awards
2005: Distinguished Biomedical Faculty Lectureship, University of Michigan
2001: AAAS Fellow
1997-99: President, International Mammalian Genetics Society
1995: Sarah Goddard Power Award, University of Michigan
1993: Distinguished Faculty Achievement Award, University of Michigan
1975: Basil O Connor Scholar Award, March of Dimes
2011: Distinguished University Professor, University of Michigan
- Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS and Meisler MH (2011) Rescue of neurodegeneration by transgenic expression of a pathogenic variant of FIG4 responsible for Charcot-Marie-Tooth Disease, PLOS Genetics, 7(6):e1002104162.
- Freilich ER, Jones JM*, Reyes C, Meisler MH* and Pearl PL (2011) Novel SCN1A mutation in a patient with Malignant Migrating Partial Seizures of Infancy, Arch. Neurol. 68:665-671.
- Nicholson G, Lenk GM, Reddel S, Grant AE, Towne CF, Ferguson CJ, Simpson E, Scheuerle A, Yasick M, Hoffman S, Blouin R, Brandt C, Coppola G, Biesecker LG for the NIH Intramural Sequencing Center, Batish SD and Meisler MH (2011) Distinctive genetic and clinical features of CMT4J, a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4. Brain 134: 1959-1971.
- Ferguson C., Lenk G, Meisler MH (2009) Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2 Human Molecular Genetics 18: 4868-4878.
- Sharkey LM, Xiaoyang Cheng, Valerie Drews, David A. Buchner, Julie M. Jones,Monica J. Justice, Stephen G. Waxman, Sulayman D. Dib-Hajj, and Miriam H. Meisler (2009). The ataxia3 Mutation in N-Terminal Cytoplasmic Domain of Sodium Channel Nav1.6 Disrupts Intracellular Trafficking. J. Neurosci.29:2733-2741.
- Chow CY, Landers JE, Bergren SK, Sapp PC, Grant AE, Jones JM, Everett L, Lenk GM, McKenna-Yasek DM, Weisman LS, Figlewicz D, Brown RH, and Meisler MH (2009) Deleterious variants of FIG4, a phosphoinositide phosphatase, in patients with ALS. Am. J. Hum.Genet. 84:85-88.
- Jin N, Chow CY, Liu L, Zolov SN, Bronson R, Davisson M, Petersen JL, Zhang Y, Park S, Duex JE, Goldowitz D, Meisler MH* and Weisman LS* (2008) VAC14 nucleates a protein complex that is essential for the regulation of PI(3,5)P2 levels in yeast and mouse. EMBO J. 27:3221-34. (*co-senior authors).
- Drews VL, Shi K, de Haan G and Meisler MH (2007) Identification of evolutionarily conserved, functional noncoding elements in the promoter region of the sodium channel gene SCN8A. Mammalian Genome 18:723-31.
- Howell VM, Jones JM, Bergren S, Li L, Billi AC, Avenarius MR and Meisler MH (2007) Evidence for a direct role of the disease modifier SCNM1 in splicing. Human Molecular Genetics 16:2506-2516.
- Chow CY, ZhangY, Dowling J, Jin N, Adamska M, Shiga K, Szigeta K, Shy M, Li J, Zhang X, Lupski JR, Weisman L, Meisler MH (2007) Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT type 4G. Nature 448:68-72.
- Kearney JA, Wiste AK, Stephani U, Trudeau MM, Siegel A, RamachandranNair R, Elterman RD, Muhle H, Reinsdorf J, Shields WD, Meisler MH, Escayg A. (2006) Recurrent de novo mutations of SCN1A in severe myoclonic epilepsy of infancy. Pediatric Neurol. 34:116-120.
- Levin SI, Aman TK, Khaliq ZM, Grieco TM, Woodruff-Pak DS, Raman IM and Meisler MH. (2006) Impaired motor function and learning in mice with conditional knockout of the Na channel Scn8a (NaV1.6) in cerebellar Purkinje neurons and granule cells. J. Neurophysiology 96:785-93. Epub 2006 May 10.
- Trudeau MM, Dalton JC, Day JW, Ranum LP, Meisler MH. (2006) Heterozygosity for a protein truncation mutation of sodium channel SCN8A in a patient with cerebellar atrophy, ataxia and mental retardation. J Med Genet. 43:527-30. Epub 2005 Oct 19.
- Schmitt-JohnT, Drepper C, Mumann A, Hahn P, Kuhlmann M, Thiel C, Hafner M, Lengeling A, Heimann P, Jones JM, Meisler MH, Jockusch H (2005) Mutation of Vps54 causes motor neuron disease and defective spermiogenesis in the wobbler mouse. Nature Genetics 37:1213-1215.
Ian Miller, MD, Miami Children's Hospital
My interests in epilepsy caused by SCN1a (commonly called “Dravet syndrome”) started during my child neurology residency at the University of Washington in Seattle in 2004. I can still remember the first time my attending suggested “we should test him for SCN1a” after we obtained a history of seizures following vaccination. Having an answer for the family was simultaneously rewarding and sad: in spite of the work by Dr. Scheffer and others, we had only just begun to understand the wide spectrum of seizure severity that are possible in the disorder. However, the diagnosis did allow us to avoid spending time trying ineffective medications, and we have been slowly adding to our treatment options ever since. Similarly, our experience has increased: I have personally provided medical care for over 150 children with SCN1a-related epilepsy. As a result, we now have experience with less commonly used (but scientifically supported/non-research) medications such as stiripentol, and bromide, as well as the hope for effectiveness with medications such as cannabidiol, verapamil, fenfluramine, or tailored genetic therapy such as antisense DNA.
Education, Training, and Previous Positions
08/1993 – 06/1997: Colorado School of Mines, Golden, CO
08/1997 – 05/2001: M.D., University of Iowa, Iowa City, IA
07/2001 – 06/2003: Resident, Pediatrics, University of Utah, Primary Children’s Medical Center, University of Utah Health Sciences Center
07/2003 – 06/2006 Resident, Neurology and Pediatric Neurology, University of Washington, Seattle, WA
07/2006 – 06/2007 Fellow, Clinical Neurophysiology, Miami, FL, Miami Children’s Hospital, Cleveland Clinic Foundation
07/2007 – present: Director of Neuroinformatics, Miami Children’s Hospital, Miami, FL
01/2008 – present: Courtesy Assistant Professor in Biomedical Engineering, Florida International University
Membership in Honorary and Professional Societies
01/2004 – present: American Academy of Neurology
10/2007 – present: American Epilepsy Society
07/2008 – present: MCH Patient Safety Committee
07/2008 – present: MCH IT Steering Committee
Selected Honors and Awards
2012: Ciara’s Butterfly Bash Honoree
2006: National EpiFellows Foundation Scientific Forum Award
2006: J. Kiffin Penry Residents Program in Epilepsy Award
2005: Child Neurology Society Annual Meeting Resident Scholarship
2005: American Academy of Neurology Annual Meeting Resident Scholarship
Refereed journal publications / Original papers
- Tito, M. et al. Classification of electroencephalographic seizure recordings into ictal and interictal files using correlation sum. Comput Biol Med. 2009 Jul;39(7):604-14. Epub 2009 May 20. (PMID: 19467652).
- Perry, M. et al. Predictors of seizure freedom after incomplete resection in children. Neurology. 2010 Oct 19;75(16):1448-53. (PMID: 20956789).
- Butson, C. et al. Selective neural activation in a histologically derived model of peripheral nerve. J Neural Eng. 2011 Jun;8(3):036009. Epub 2011 Apr 11. (PMID: 21478574).
- Oh, S. et al. In vivo optical properties of cortical tubers in children with tuberous sclerosis complex (TSC): a preliminary investigation. Epilepsia. 2011 Sep;52(9):1699-704. Epub 2011 Jul 18. (PMID: 21762450).
- Miller, I. & Sotero, M. SCN1a-Related Seizure Disorders. www.ncbi.nlm.nih.gov/books/NBK1318/ (Written: November 29, 2007; Updated: November 10, 2011.)
- Krsek, P. et al. Localizing value of ictal SPECT is comparable to MRI and EEG in children with focal cortical dysplasia. Epilepsia. 2013 Feb;54(2):351-8. Epub 2013 Jan 7. (PMID: 23293926).
Books, chapters, and reviews
- Duchowny, M., and Miller, I. (2009). Interepretation of Subdural EEG. In B. Fisch & R. Spehlmann (Ed.), Fisch and Spehlmann’s Eeg Primer: Basic Principles of Digital and Analog EEG
- Miller, I. and Tuchman, R. (2009). In P Howlin,T. Charman, and M. Ghaziuddin (Ed.), The SAGE Handbook of Developmental Disorders.
- Miller, I. et al. Early Experience with Minimally Invasive Epilepsy Surgery using Laser Ablation in a Pediatric Cohort. American Epilepsy Society, 2012.
- Bhatia, S and Miller, I., et al. Surgical failure in hemispherectomy – incomplete disconnection or contralateral epileptogenicity. American Epilepsy Society, 2008.
- Butson, C., Miller, I., et al. Computational Model Of Axon Activation Evoked From Electrode Array Implanted In Cat Sciatic Nerve. Program No. 493.4. 2003 Abstract Viewer/Itinerary Planner. Washington, DC: Society for Neuroscience, 2003.
- R.C. Ahrens et al. Temporal Association Between Acquisition Of Pseudomonas Aeruginosa Infection And Onset Of Declining Fev1 In Patients With Cystic Fibrosis. 10th Annual North American Cystic Fibrosis Conference. Orlando, Florida, October 24-27, 1996. Abstracts. Pediatr Pulmonol Suppl. 1996 Sep;13:74-365
Ann Poduri, MD, Boston Children’s Hospital
Dr. Ann Poduri is a clinician-scientist at Boston Children’s Hospital. Her research program is focused on understanding the genetic causes of human epilepsy with a long-term goal of creating models of human epilepsy and developing novel therapies. She serves on the faculty of Boston Children’s Hospital’s Department of Neurology, co-directs the Department’s Program in Neurogenetics, and runs the Epilepsy Genetics Program, a clinical consultation service for known or suspected cases of genetic epilepsy coupled with Dr. Poduri’s basic science laboratory. Dr. Poduri’s group studies genetic causes of early onset epilepsy—including inherited and de novo mutations in patients with severe early onset epilepsy and de novo somatic mutations in epileptic brain malformations. She is the Boston Children’s PI of the NINDS-supported Epilepsy Phenome/Genome Project and a Co-Investigator in the NINDS-supported Epi4K sequencing project studying the genetic causes of epileptic encephalopathies and brain malformations. While continuing work on gene discovery, Dr. Poduri’s group has begun modeling candidate epilepsy genes in the zebrafish model with the long-term goal of developing novel therapies for epilepsy that can be translated back to the clinic.