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 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
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.
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
Neurology with special qualification in Child Neurology
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
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
Dr. Perry is the Medical Director of Neurology and the Genetic Epilepsy Clinic at the Jane and John Justin Neurosciences Center of Cook Children’s Medical Center, Fort Worth, TX. He completed his MD at the University of Mississippi School of Medicine and general pediatrics and child neurology training at Emory University. He completed a Clinical Neurophysiology fellowship at Miami Children’s Hospital before joining Cook Children’s in 2009. His clinical and research interests include the use of epilepsy surgery for the treatment of intractable childhood epilepsy and the evaluation and treatment of genetic epilepsy syndromes.
Joseph 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.
Dr. 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.
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
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 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.
Dr. Isom is the Maurice H. Seevers Professor and Chair of the Department of Pharmacology, Professor of Molecular and Integrative Physiology, and Professor of Neurology at the University of Michigan Medical School. Prior to becoming Chair of Pharmacology she served as Director of the Program in Biomedical Sciences and Assistant Dean for Graduate Education in the University of Michigan Medical School. She received her PhD in Pharmacology at Vanderbilt University School of Medicine and then trained as a postdoctoral fellow in the laboratory of Dr. William A. Catterall at the University of Washington. Dr. Isom’s postdoctoral research included the first cloning, sequencing, and expression of voltage-gated sodium channel SCN1B and SCN2B, encoding b1 and b2 subunits, respectively. Dr. Isom’s laboratory at the University of Michigan focuses on voltage-gated sodium channel structure, function, and role in epileptic encephalopathy, including Dravet syndrome.
Her laboratory employs a variety of techniques, including cellular and molecular biology, genetics, and electrophysiology. Highlights of Dr. Isom’s research program include the discovery that sodium channel b subunits, in addition to functioning as ion channel modulators, are multi-functional 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 and collaborates with Dr. Jack Parent and Dr. Miriam Meisler to investigate SCN1A, SCN1B, and SCN8A epileptic encephalopathy mutations in mouse models and human induced pluripotent stem cell (iPSC) neurons and cardiac myocytes. In addition to her research activities, Dr. Isom serves as PI of an NIH funded T32 grant, co-chairs the Dravet Syndrome Foundation Scientific Advisory Board with Dr. Parent, serves on NIH grant study sections and editorial boards of scientific journals, and has received awards for research and mentoring, including a recent NINDS Javits R37 MERIT award and the University of Michigan Rackham Distinguished Graduate Mentoring Award. In 2011, she was elected a Fellow of the American Association for the Advancement of Science for her work in Neuroscience and Graduate Education.
Scott C. Baraban, PhD is a Professor of Neurological Surgery and William K. Bowes Jr. Endowed Chair in Neuroscience Research at the University of California, San Francisco. Dr. Baraban’s lab studies the cellular and molecular basis of epilepsy, specifically catastrophic epilepsies of childhood. While some seizures can be controlled with available medications, a large number of pediatric epilepsy patients are medically intractable. Combining pharmacology, genetics, electrophysiology, cell transplantation, and unique zebrafish models of genetic epilepsies they are identifying new treatments for these patients. The first zebrafish models for epilepsy were developed in the Baraban lab over 15 years ago and recent drug screening efforts in a zebrafish model for DS have led to new therapeutic candidates. Publications from the Baraban laboratory (>100) have appeared in Science, Nature Neuroscience, Nature Communications, Journal of Neuroscience, Proceedings of the National Academy of Sciences, and Neuron.
Dr. Baraban is the recipient of awards from the Esther and Joseph Klingenstein Fund, the Sandler Family Supporting Foundation, the UCSF Innovation in Basic Science Award, a EUREKA grant and Javits Neuroscience Award from the NIH. In 2016, he received the Basic Science Research Recognition Award from the American Epilepsy Society. He was co-Chair (with Jack Parent) of the 2014 Gordon Research Conference on epilepsy and Scientific Program Committee Chair for the 2015 AES meeting. He serves on the Scientific Advisory Board of the Dravet Syndrome Foundation, the Gruppo Famiglie Dravet association (Italy) and as a regular member of CNNT study section at NIH.
Dennis J. Dlugos, MD, is Professor of Neurology and Pediatrics in 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 went on to complete his 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, CHOP. He is a member of the American Epilepsy Society, and serves as Chair of the Education and Professional Development Committee. Dr. Dlugos serves as Vice-President of the Epilepsy Study Consortium, which is dedicated to improving the quality of epilepsy clinical trials.
His clinical and research interests include clinical trials, epilepsy genetics and pharmacogenetics, epilepsy surgery, and intensive-care EEG monitoring. Articles authored or co-authored by Dr. Dlugos have been published in Neurology, Annals of Neurology, Lancet Neurology, Epilepsia, Lancet, Nature, the New England Journal of Medicine, and other journals. Dr. Dlugos has been NIH-funded since 2001, and has mentored 30 pediatric epilepsy fellows. He has lectured extensively throughout the US, Europe, South America and Asia.
Ethan Goldberg, MD, is Assistant Professor of Neurology & Neuroscience in the Division of Neurology at The Children’s Hospital of Philadelphia and Departments of Neurology & Neuroscience at The University of Pennsylvania School of Medicine in Philadelphia, PA. He received a PhD in Physiology & Neuroscience at New York University in 2006 under the direction of Bernardo Rudy as well as an MD at NYU. He completed residency training in pediatrics and child neurology and post-doctoral training in the laboratory of Douglas Coulter at CHOP. He is now an Attending Physician in the Neurogenetics Program at The Children’s Hospital of Philadelphia and leads a biomedical research laboratory studying the pathophysiology of pediatric epilepsy.
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.
American Epilepsy Society, Child Neurology Society, American Academy of Neurology, Society for Neuroscience
University of Rochester, 1991
- 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
- Board certified in: Neurology with special qualifications in Child Neurology;
- Neurology with special qualification in Epilepsy
Dr. Mefford is an Associate Professor of Pediatrics at the University of Washington in the Division of Genetic Medicine and attending physician at Seattle Children’s Hospital in the Genetic Medicine Clinic. Dr. Mefford’s research laboratory is devoted to the discovery of novel genetic and genomic causes of pediatric disease. A major focus of their current work is to identify causes of pediatric epilepsy by employing state-of-the-art technologies including whole exome sequencing, targeted gene panel sequencing and custom array comparative genomic hybridization (aCGH). The Mefford lab has discovered numerous new epilepsy genes and copy number variants. Dr. Mefford has also been involved in the discovery and characterization of several new genomic disorders, including deletions of chromosomes 1q21, 15q13 and 17q12, each of which cause a range of clinical features. She is continuing to investigate individuals with these conditions to better understand the variable outcomes. Dr. Meffords clinical interests parallel her research interests and include seeing patients with genomic disorders and patients with severe epilepsies and neurocognitive defects of unknown etiology.
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.