Scientific & Medical Advisory Boards 2016-12-20T01:56:51+00:00
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DSF Medical Advisory Board

DSF’s Medical Advisory Board (MAB) is comprised of recognized authorities in the clinical treatment of Dravet syndrome. They have devoted their time and medical expertise to improving the lives of those afflicted with Dravet syndrome and associated epilepsies. Their role is to provide strategic advice and counsel to support the mission of DSF. The MAB offers input on clinical trials that impact the Dravet community; serve as a representative link between DSF and the medical community; and update the best practices for the North American Dravet Syndrome Treatment Consensus.

DSF Scientific Advisory Board

Dravet Syndrome Foundation’s Scientific Advisory Board (SAB) 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.

Medical Board Members

Dr. Laux with a patient

Dr. Laux with a patient

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.

Education

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

Certifications

Board certified in Neurology with special qualifications in Child Neurology

Neurology with special qualifications in Clinical Neurophysiology

Professional Organizations

American Epilepsy Society

American Clinical Neurophysiology Society

Child Neurology Society

Dr Knupp is an attending physician at Children’s Hospital Colorado in Aurora, CO in Pediatric Neurology and Neurophysiology. She is Assistant Professor of Pediatrics and Neurology at the University of Colorado, School of Medicine. She is director of the Dravet program at Children’s Hospital Colorado. Her interests are Dravet syndrome, infantile spasms and early pediatric encephalopathies.

Education:

2002-2003: fellowship in clinical neurophysiology at the Neurologic Institute of New York, Columbia Presbyterian Hospital, Columbia University

1999 – 2002: Residency in Pediatric Neurology at Children’s Hospital of New York/ Neurologic Institute of New York, Columbia University

1997-1999: Residency in Pediatrics at Children’s Hospital of New York, Columbia University

1994-1997: University of New Mexico – School of Medicine

Certification:

Neurology with special qualification in Child Neurology

Clinical Neurophysiology

Professional Organizations

American Epilepsy Society

Child Neurology Society

Pediatric Epilepsy Research Consortium

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

Faculty Appointments

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

Bibliography

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.

Abstracts

  • 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

joseph-sullivan-mdJoseph Sullivan is an Associate Professor of Neurology & Pediatrics and Director of the UCSF Pediatric Epilepsy Center. As a clinician, Dr. Sullivan sees patients on both the outpatient and inpatient setting and has specific interests in epilepsy surgery as well as genetic epilepsies such as Dravet syndrome and PCDH19 Girls Clustering Epilepsy.

His research has focused on EEG and clinical phenotyping of these pediatric epilepsies and he was a member of the EPGP EEG core. His current projects include a collaboration sponsored by the Dravet Syndrome Foundation using a Delphi process to look at Diagnosis and Treatment Consensus in Dravet Syndrome as well as the principal investigator at UCSF for the Epilepsy Genetics Initiative.

elaine-wirrell-mdDr. Wirrell is a Professor of Epilepsy and Child Neurology and Director of Pediatric Epilepsy at Mayo Clinic in Rochester, MN. She is also a member of the Steering Committee of the Pediatric Epilepsy Research Consortium. She is particularly interested in early onset epilepsies such as Dravet syndrome. Her research focuses on the epidemiology and co-morbidities of epilepsy and on outcomes with various therapies.

Education:

1989                       M.D. Honours, University of British Columbia, Vancouver, B.C.

1989-1993            Pediatrics Residency, IWK Hospital for Children, Halifax, Nova Scotia

1993-1996            Pediatric Neurology, Epilepsy Fellow, IWK Hospital for Children, Halifax, Nova Scotia

Selected Publications:

1. LD Hamiwka, EC Wirrell. Co-morbidities in Pediatric Epilepsy: Beyond “Just” Treating the Seizures. J Child Neurol. 2009;24 (6):734-42.

2. B Moseley*, K Nickels, J Britton, E Wirrell. How common is ictal hypoxemia and bradycardia in children with partial complex and generalized convulsive seizures? Epilepsia 2010;51:1219-24.

3. Wirrell EC, Grossardt  BR, So EL, Nickels KC. A Population-Based Study of Long-term Outcomes of Cryptogenic Focal Epilepsy in Childhood: Cryptogenic Epilepsy is NOT Probably Symptomatic Epilepsy. Epilepsia 2011;52(4):738-45.

4. Wirrell EC. Grossardt  BR, Wong-Kisiel L, Nickels KC. Incidence of New-Onset Epilepsy and Epilepsy Syndromes in Children in Rochester, Minnesota from 1980-2004: A population-based study. Epilepsy Research 2011;95:110-8.

5. Carranza Rojo, D, Hamiwka L, McMahon JM, Dibbens LM, Asrov T, Suls A, Bayly MA, Burke C, Stodberg T, Kelley K, Dalatycki M, Wirrell E, Appleton R , Mackay M, Freeman JL, Berkovic SF, Bienvenu T, De Jonghe P, Thorburn DR, Mulley JC, Mefford HC, Scheffer IE. Migrating partial seizures of infancy is uncommonly associated with SCN1A mutations. Neurology 2011;77:380-3.

6. AM Quek, JW Britton, A McKeon, E So, VA Lennon, C Shin, CJ Klein, RE Watson, AL Kotsenas, TD Lagerlund, GD Cascino, GA Worrell, EC Wirrell, KC Nickels, KP Wandinger, SJ Pittock. Autoimmune epilepsy: clinical characteristics and response to immunotherapy. Arch Neurol 2012;69(5):582-93.

7. E Wirrell, L Wong-Kisiel, J Mandrekar, K Nickels. Predictors and Course of Medically Intractable Epilepsy in Young Children Presenting Before 36 Months of Age: A Population-Based Study. Epilepsia 2012;53(9):1563-9.

8. KC Nickels, BR Grossardt, EC Wirrell. Epilepsy-related mortality is low in children: a 30 year population-based study in Olmsted County, MN. Epilepsia 2012;53:2164-71.

9. JC Mulley, B Hodgson, JM McMahon, X Iona, S Bellows, S Mullen, K Farrell, M Mackay, L Sadleir, A Bleasel, D Gill, R Webster, EC Wirrell, M Harbord, S Sisodiya, E Andermann, S Kivity, SF Berkovic, IE Scheffer, LM Dibbens. The role of the sodium channel SCN9A in GEFS+ and Dravet syndrome. Epilepsia 2013;54:.122-6.

10. E Wirrell, L Wong-Kisiel, J Mandrekar, K Nickels. What predicts enduring intractability in children who appear medically intractable in the first 2 years after diagnosis? Epilepsia, 2013;54:1056-64.

11. A Berg, K Nickels, E Wirrell, A Geerts, WF Arts, P Callenbach, C Rios, P Camfield, C Camfield. Mortality risks in new-onset childhood epilepsy. Pediatrics 2013;132:124-31.

12. E Wirrell, L Laux, DN Franz, J Sullivan, RP Saneto, RP Morse, O Devinsky, H Chugani, A Hernandez, L Hamiwka, MA Mikati, I Valencia, ME Le Guern, L Chancharme, M Sotero de Menezes. Stiripentol in Dravet syndrome: results of a retrospective US study. Epilepsia 2013;54:1595-604.

13. B Moseley, L Bateman, JJ Millichap, E Wirrell, CP Panayiotopoulos. Autonomic epileptic  seizures, autonomic effects of seizures and SUDEP. Epilepsy Behav, 2013;26(3)375-85.

14. S Shull, G Diaz-Medina, S Eckert, L Wong-Kisiel, K Nickels, E Wirrell. Early efficacy of the ketogenic diet is not affected by initial body mass index percentile. Pediatric Neurol 2014;50:469-73.

15. E Wirrell, L Wong-Kisiel, K Nickels. Seizure outcome after AED failure in pediatric forcal epilepsy: impact of underlying etiology. Epilepsy Behav 2014;34:20-4.

Recent Book Chapters:

1. E Wirrell, CS Camfield, PR Camfield. Benign and Idiopathic Focal Epilepsies. In Epilepsy: Principles and Practice, 5th edition, E. Wyllie, G Cascino, B Gidal, H Goodkin (eds), Lippincott-Williams-Wilkins, 2010, pp 243-57.

2.  K Nickels, E Wirrell. Symptomatic Generalized Epilepsy. In Adult Epilepsy: G Cascino, J Sirven, J Whelass (eds), John Wiley and Sons, West Sussex, UK, 2011.

3. K Nickels, E Wirrell. Pediatric Epilepsy Syndromes. Epilepsy Continuum Edition, American Academy of Neurology, 2010;16:57-85.

4. K Nickels, E Wirrell. Benign and Malignant Epilepsies in Children. Epilepsy “Neurology in Practice”, J Miller, H Goodkin, editors, 2014.

Scientific Board Members

jack-parent-mdJack M. Parent, MD, 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-phdScott 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.
Dennis J. Dlugos, MD, is Professor of Neurology and Pediatrics at the Perelman School of Medicine at the University of Pennsylvania; and Director, Pediatric Regional Epilepsy Program at The Children’s Hospital of Philadelphia (CHOP). He received his MD from Columbia University College of Physicians and Surgeons, New York. He completed an internship in Pediatrics at the National Naval Medical Center, Bethesda, Maryland; a residency in Pediatrics at Thomas Jefferson University, Philadelphia, Pennsylvania, and Alfred I. duPont Institute, Wilmington, Delaware; a residency in Neurology / Child Neurology at the University of Pennsylvania Medical Center and CHOP; and his fellowship in Epilepsy and Clinical Neurophysiology at CHOP.

Articles by Dr. Dlugos have been published in Neurology, Annals of Neurology, Epilepsia, theNew England Journal of Medicine, and other journals. His clinical and research interests include pediatric epilepsy, epilepsy surgery, epilepsy genetics and pharmacogenetics, clinical trials, and intensive-care EEG monitoring. Dr. Dlugos is chair of the American Epilepsy Society (AES) Life Long Learning Committee, and former chair of the AES Pediatric Content Committee.

lori_isom-phd

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

Dr. Koh is a pediatric neurologist with a clinical and research specialization in epilepsy at Children’s Healthcare Atlanta. She is a Marcus Professor in Neurology and Associate Professor, Division of Neurology, Department of Pediatrics at Emory University School of Medicine. Her research is focused on understanding the progressive disease processes and brain damage that devastate many children with epilepsy.

Professional Organizations
American Epilepsy Society, Child Neurology Society, American Academy of Neurology, Society for Neuroscience

Medical School
University of Rochester, 1991

Postgraduate Training

  • Clinical Epilepsy Fellowship, Children’s Hospital Boston, 1998-2001; Clinical and Research
  • Fellowship in Epilepsy, Mass General Hospital,1996-1998; Residency in pediatric neurology,
  • New England Medical Center, Boston, 1993-1996; Residency in pediatrics, New England
  • Medical Center, 1991-1993; Postdoctoral fellowship in neurobiology and anatomy, University of
    Rochester, 1989

Certifications

  • Board certified in: Neurology with special qualifications in Child Neurology;
  • Neurology with special qualification in Epilepsy
miriam-meisler-phd-university-of-michiganDr 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.

Education

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

Selected Publications

  • 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.
dr_annapurna_poduri-mdDr. 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.
ingrid-scheffermdLaureate Professor Ingrid Scheffer is a physician-scientist whose work as a paediatric neurologist and epileptologist has led the field of epilepsy genetics over 25 years, in collaboration with Professor Samuel Berkovic and molecular geneticists. This resulted in identification of the first epilepsy gene and many more genes subsequently. Professor Scheffer has described many novel epilepsy syndromes and refines genotype–phenotype correlation. Her major interests are in the genetics of the epilepsies, epilepsy syndromology and translational research. She has research projects in genetics of speech disorders, autism and intellectual disability. She led the first major reclassification of the epilepsies in two decades as Chair of the International League Against Epilepsy Commission for Classification and Terminology. Awards include American Epilepsy Society Clinical Research Recognition Award, 2013 GSK Award for Research Excellence, ILAE Ambassador for Epilepsy Award, 2013 Emil Becker Prize for child neurology and Asia-Pacific L’Oréal-UNESCO Women in Science Laureate for 2012. She is a Fellow of the Australian Academy of Science and Vice-President of Australian Academy of Health and Medical Sciences. She was co-recipient of 2014 Prime Minister’s Prize for Science and received the Order of Australia in 2014.
jokubas-ziburkus-phd

Jokūbas Žiburkus, PhD, is an Associate Professor of Biology and Biochemistry at the University of Houston.  Dr. Žiburkus’ expertise is in neurophysiology, neuroanatomy, neuropharmacology, and live cell imaging. The primary goal of his research is to improve the understanding and treatment options for drug-resistant pediatric epilepsies with an emphasis on Dravet syndrome. “I‘m honored to serve on the DSF Scientific Advisory Board, as we are collectively dedicated to developing new knowledge and through it, an effective therapy for catastrophic epilepsies, a challenging task that requires an open-minded, multidisciplinary and collaborative approach”, said Žiburkus.

Education, Training, and Positions:

1996: B.S., Hillsdale College, Hillsdale, MI

2001: Ph.D., Louisiana State University Health Sciences Center, New Orleans, LA

2001-2003: Postdoctoral Fellow, Johns Hopkins University, Mind/Brain Institute, Baltimore, MD

2003-2006: Research Assistant Professor,

2006-2007: Research Associate, Pennsylvania State University, State College, PA

2007-2014: Assistant Professor, University of Houston, Houston, TX

2014-present: Associate Professor, University of Houston, Houston, TX

Selected Professional memberships:

Federation of European Neuroscience Societies

Society for Neuroscience

American Epilepsy Society

Awards

1991-1996: International Academic Scholarship Tuition Award, Hillsdale College, MI.

2001: LSU HSC, Graduate School, Dean’s Award for an Outstanding Dissertation

2004-2005: Epilepsy Foundation of America, Post-Doctoral Fellowship

2008: Epilepsy Foundation of America, Junior Investigator Award

2012: Alzheimer Association, New Investigator Research Award

2014: University of Houston, Teaching Excellence Award

2014: Visiting International Scholar Award, Lithuania’s Ministry of Education and Science and Vilnius Gediminas Technical University, Vilnius, Lithuania

Selected Recent Publications

Epilepsy, seizure models, and ictogenesis.

ö Gu F, Hazra A, Aulakh A and Žiburkus J. (2014) Purinergic control of hippocampal circuit hyperexcitability in Dravet syndrome. Epilepsia.

ö Ingram J, Zhang C, Cressman JR, Hazra A, Wei Y, Koo YE, Žiburkus J, Kopelman R, Xu J, Schiff SJ. (2014) Oxygen and Seizure Dynamics: I. Experiments. Journal of Neurophysiology.

ö Žiburkus J, Cressman JR, Schiff SJ. (2013) Seizures as imbalanced up states: excitatory and inhibitory conductances during seizure-like events. Journal of Neurophysiology.

ö Hazra, A., Rosenbaum, R. Cao, S. Bodmann, B., Josic, K., Žiburkus, J. (2012) Beta adrenergic modulation of spontaneous spatiotemporal activity patterns and synchrony in hyper-excitable hippocampal circuits. Journal of Neurophysiology.

ö Cressman JR, Ullah G, Žiburkus, J., Schiff SJ, Barreto E (2009) The Influence of Sodium and Potassium Dynamics on Excitability, Seizures, and the Stability of Persistent States: I. Single Neuron Dynamics. Journal of Computational Neuroscience

ö Schiff, SJ, Cressman, JR, Barreto E, and Žiburkus, J. (2008) Towards a Dynamics of Seizure Mechanics: Chapter in “Computational Neuroscience in Epilepsy”, Edited by Drs.  Soltesz I and Staley K.  Elsevier Academic Press.

ö Žiburkus, J., Cressman, J.R., Barreto, E. and Schiff, S.J. (2006) Interneuron and pyramidal cell interplay during in vitro seizure-like events. Journal of Neurophysiology.

Synaptic plasticity: development and aging.

ö Hazra A, Gu F, Berridge C, Aulakh A, Eriksen J* and Žiburkus J. (2013) “Inhibitory neuron and hippocampal circuit dysfunction in an aged mouse model of Alzheimer’s disease” PLoS ONE.

ö Žiburkus J, Dilger E, Lo F-S, Guido W. (2009) “LTD and LTP at the developing retinogeniculate synapse” Journal of Neurophysiology.

ö Seol GH†, Žiburkus J†, Huang SY, Song L, Kim IT, Takamiya K, Huganir RL, Lee H-K, and Kirkwood  A. † Equally contributing authors. (2007) Neuromodulators control the polarity of spike-timing dependent synaptic plasticity. Neuron.