Alternating Hemiplegia of Childhood Foundation
Medical Advisory Board
The AHCF Medical Advisory Board is comprised of recognized authorities of the Alternating Hemiplegia of Childhood (AHC) disorder. At leading academic facilities, clinical hospitals, and research institutions; all have devoted their time and medical expertise to improving the lives of people afflicted with AHC. The role of the AHCF Medical Advisory Board is to provide strategic advice and counsel, as requested by the AHCF Board of Directors, to support the mission of the Alternating Hemiplegia of Childhood Foundation.Medical Advisory Board Chair
Matthew T. Sweney, MD., M.S.
University of Utah, Division of Pediatric Neurology
Clinical Instructor/Clinical Neurophysiology Fellow
Primary Children’s Medical Canter
100 N Mario Capecchi Drive
Salt Lake City, Utah 84113
801-587-7575
Matthew.Sweney@hsc.utah.edu
Matthew Thomas Sweney, MD, MS is originally from Lincoln, NE, and attended the University of Nebraska-Lincoln where he received his BS in Biosystems Engineering. Afterward, Matthew attended the University of Minnesota-Twin Cities and received his Masters in Biomedical Engineering. He returned to Nebraska and attended the University of Nebraska, College of Medicine, where he received his MD in 2004. After graduation, Matthew completed his pediatric residency at the combined University of Nebraska-Creighton University training program. He came to the University of Utah in 2007 and completed a one year Research Fellowship studying Alternating Hemiplegia of Childhood with Katherine Swoboda, MD prior to completing his fellowship in general child neurology in 2011. Following his child neurology, he completed a one-year clinical neurophysiology fellowship with focus on electroencephalography and epilepsy. He is currently appointed as an assistant professor of pediatric neurology with special emphasis on epilepsy.
Dr Sweney’s past research interests have included ocular drug delivery and neuroprotective measures in stroke management during his graduate training. He has published on congenital malformations and steroid use in neonatal critical care during his general pediatric training. Currently, he continues to investigate the genetic and clinical aspects of Alternating Hemiplegia of Childhood as well as focusing efforts on improving epilepsy care for children in Utah and surrounding areas. He is board certified in both general pediatrics and neurology with special emphasis on child and adolescent care.
A list of selected publications can be found here https://www.doximity.com/pub/Medical Advisory Board Vice-Chair
Kenneth Silver, MD, MSc, F.R.C.P.
Kenneth Silver, M.D., is a pediatric neurologist at Shriners Hospitals for Children — Chicago and co-director of the muscular dystrophy MDA-affiliated clinic at Shriners Hospitals for Children — Chicago. He is board certified in neurology and pediatric neurology from the American Board of Psychiatry and Neurology, Inc. As a pediatric neurologist he provides care for patients and investigates diseases of the nervous system, which includes the brain, spinal cord and muscles.
Dr. Silver is a clinical associate at the University of Chicago and past program director for pediatric neurology training at the University of Chicago where he helped to train the next generation of pediatric neurologists. Dr. Silver was an associate professor at McGill University in Canada and worked at our sister Shriners Hospital in Montreal.
Areas of interest include treating spasticity in children with cerebral palsy, neuromuscular disorders, neurogenetics and movement disorders. Dr. Silver has a research and clinical interest in alternating hemiplegia of childhood. Dr Silver’s Nurse – Jen Lipparmano. she can be reached for Appointments at 773-383-5895, Fax 773-385-5505
Dr Silver is also an active researcher and is fluent in English and French. He has been in practice since 1979. He completed his MD at the University of Saskatchewan, Canada, followed by residency and fellowship at Children’s Health Center in Winnipeg, Canada, Montreal Children’s Hospital and the Montreal Neurological Institute. He is a member of the American Academy of Neurology and the American Headache Society.
Suzanne D. DeBrosse, MD
Clinical Geneticist
Center for Human Genetics
University Hospitals Case Medical Center
Lakeside 1500
11100 Euclid Avenue, Mailstop LKS 6055
Cleveland, OH 44106
Phone: 216.844.3936
Fax: 216.844.7497
suzanne.debrosse@uhhospitals.org
Suzanne D. DeBrosse, M.D. is a clinical geneticist in the Center for Human Genetics at University Hospitals Case Medical Center, and a Clinical Assistant Professor of Genetics at Case Western Reserve University in Cleveland, Ohio. She is a graduate of Case Western Reserve University School of Medicine, and completed residencies in Pediatrics and Child Neurology at Rainbow Babies & Children’s Hospital. She completed her residency in Medical Genetics at University Hospitals Case Medical Center.
Dr DeBrosse is board certified in Pediatrics, Neurology with Special Qualification in Child Neurology, and Medical Genetics. She practices clinical genetics with a focus on diseases of the nervous system in children and adults.
Laurie Ozelius, PhD
Associate Professor of Neurology
Harvard Medical School
Associate Neuroscientist, Neurology
Massachusetts General Hospital
16th St, Blding 114, Rm3200
Charlestown, MA 02129
E-mail: lozelius@partners.org
Phone: 617 724-2346
Laurie Ozelius, PhD earned her Bachelor’s degree in biology from Brown University in 1984, and went on to receive a PhD in Genetics from Harvard Medical School (HMS) in 1994. She did her graduate and postdoctoral training in the lab of Xandra Breakefield, PhD, at Massachusetts General Hospital. In 1996, she joined the staff at Mass General as an instructor in neurology working in the Molecular Neurogenetics Unit under the direction of James Gusella, PhD.
In 1998, Dr. Ozelius became an Assistant Professor at HMS, and then moved to the Albert Einstein College of Medicine in New York, where she rose to the rank of Associate Professor of Molecular Genetics. In 2007 she became an Associate Professor in Genetics and Genomics Sciences and Neurology at Icahn School of Medicine at Mount Sinai in New York, where she also held the Bachmann Strauss Chair in Movement Disorders. She returned to Boston in 2015, as an Associate Professor of Neurology at HMS and an Associate Neuroscientist at Massachusetts General Hospital.
Dr. Ozelius works to uncover genetic causes for movement disorders, especially dystonias and Parkinson’s disease. In 1997, Ozelius and colleagues identified the first genetic cause for an isolated inherited dystonia, when they found mutations in the DYT1 (TOR1A) gene in patients with early onset isolated dystonia. She has also shown that variants within TOR1A are associated with the reduced penetrance of this disorder. Subsequent work uncovered two additional genes for isolated dystonia (THAP1 and GNAL), and a gene for rapid onset dystonia parkinsonism (ATP1A3).
The Ozelius laboratory also played a central role in identifying the G2019S LRRK2 gene mutation as a major cause of Parkinson’s disease in the Ashkenazi Jewish population.
Dr. Ozelius collaborates with movement disorder clinicians worldwide to collect and characterize patients and families with various inherited dystonias and other movement disorders. Her lab applies several genetic strategies, including genome-wide association studies and next-generation sequencing to identify new genes and risk factors involved in these diseases. Her work is helping to clarify the underlying mechanisms and basic pathophysiology of dystonias and PD, providing a foundation for better diagnosis and effective treatments.
Complete List of Published Work in PubMed:
http://www.ncbi.nlm.nih.gov/
Hendrik Rosewich, MD
Assistant Professor
Department of Pediatrics and Adolescent Medicine
Division of Pediatric Neurology
University Medical Center Göttingen
Georg August University
Faculty of Medicine
Office Postal Address:
Robert-Koch-Strasse 40
D-37075 Göttingen, Germany
Phone: +49 551-39 6210
Fax: +49 551-39 6252
hendrik.rosewich@med.uni-Terence Sanger, MD, PhD
Children’s Hospital Los Angeles
4650 Sunset Blvd.
Los Angeles, CA 90027
(323) 361-2471, fax: (323) 361-1109
terry@sangerlab.net
Terence Sanger, MD PhD, Associate Professor of Biomedical Engineering, Biokinesiology, and Child Neurology. Dr. Sanger is an Electrical Engineer and Child Neurologist specializing in movement disorders of children. His NIH funded research includes work on understanding motor learning in children, work on the use of kinematic measurements of children to design assistive communication interfaces, and multiscale modeling of large-scale neural systems for control, with particular application to understanding the development of spasticity and dystonia. He is the director of the Child Movement Disorders Clinic at Children’s Hospital of Los Angeles. His laboratory has made important recent discoveries on the role of long-latency stretch reflexes in the genesis of childhood secondary dystonia
Dr Sanger received his undergrad degree and Masters of Science both in Applied Mathematics from Harvard University. He received his MD from Harvard and went on to achieve a PhD in Electrical Engineering from MIT.
Among his many awards are:
Dystonia Medical Research Foundation Millennium award, Pfizer scholars in pediatric research award, United Cerebral Palsy Leaves of Hope award, Hume scholars award, Stanford Biodesign fellowship teaching award, American Academy of Cerebral Palsy and Developmental Medicine Goldenson award.
More information about the Sanger Lab and a list of selected publications can be found here http://sangerlab.org/index.Masayuki Sasaki, M.D.
Chief of the Department of Child Neurology, National Center of Neurology and Psychiatry (NCNP), Japan.
masasaki@ncnp.go.jp
After he graduated from Niigata University School of Medicine in 1983, he started clinical training for Pediatrics at Niigata University Hospital. In 1988 he started clinical training for Child Neurology at NCNP. From 1992 he studied on myelin chemistry at National Institute of Health (NIH, Bethesda, MD, USA) for 2 years. Since 1994 he has been working as a clinical child neurologist at NCNP and involved in research works on mainly neuroimaging on epilepsies, inherited metabolic disorders, and autistic spectrum disorders. He also began to study on AHC in 1999. He is an advisor doctor of Japanese AHC Family Association. A list of select publications can be found here http://www.researchgate.net/Marcio A. Sotero de Menezes, MD
Director, Pediatric Neurology and Epilepsy
Swedish Neuroscience Institute, Pediatric Neuroscience Center and Genetic Epilepsy Clinic
Swedish Medical Center
Clinical Associate Professor, University of Washington Department of Neurology
Marcio.SoteroDeMenezes@swedish.org
Personal Interests: Meditation, Martial Arts and Brazilian culture
Medical School: Rio de Janeiro State University -Faculdade de Ciencias Medicas
Residency: HSE-RJ Brazil (Peds); Loyola Medical Center (Peds); Massachusetts General Hospital/Harvard Medical School (Child Neurology)
Fellowship(s): The Children’s Hospital – Boston – Harvard Medical School
Board Certifications: Board Certified in Neurology with Special Qualification in Child Neurology and Clinical Neurophysiology (ABNP)
Additional Information: Genetic Epilepies, SCN1A-mutations related epilepsy, Autossomal Dominant, Nocturnal Frontal Lobe Epilepsy, Familial Temporal Lobe Epilepsy, Familial Temporal Lobe Epilepsy with Auditory Features, (Familial Lateral Temporal Lobe Epilepsy), Familial Mesial Temporal Lobe Epilepsy, Surgical Treatment and Evaluation of Epilepsy, Vagus Nerve Stimulator Treatment for epilepsy, Skilled in intraoperative neuromonitoring.
A list of selected publications can be found here https://www.doximity.com/pub/
Sho Yano, MD., PhD
National Human Genome Research Institute
National Institutes of Health
35 Convent Drive MSC 3717, Bldg 35 Rm 1B-202
Bethesda, MD 20892
sho.yano@nih.gov
301-594-7487
Dr Yano completed his MD at the University of Chicago Pritzker School of Medicine with a PhD in molecular genetics and cell biology studying an inhibitor of DNA replication in bacteria. He remained at the University of Chicago Comer Children’s Hospital to complete his training as a pediatric neurology fellow.
In August 2015, at the 4th ATP1A3 Symposium in Bethesda MD. Dr Yano presented an abstract and did an oral presentation on a new phenotype of the ATP1A3 mutation which has since been published. In collaboration with Dr. Silver and other physicians, he identified a group of people who have ATP1A3 mutations that cause a new syndrome, ‘fever-induced paroxysmal weakness and encephalopathy.’ These children have episodes of weakness and other neurological symptoms triggered by fevers and can take months to recover.
In the future, he hopes to pursue research to understand the molecular basis of neurological disorders as an essential step toward effective treatment.
Mary Zupanc M.D.
Medical Director of the CHOC Children’s Comprehensive Epilepsy Program and Chief of the Division of Neurology
1201 W La Veta
Orange, CA 92868
phone: (714) 509-7601
fax: (714) 509-7650
mzupanc@CHOC.ORG
Dr. Mary Zupanc joined the PSF-CHOC-UCI faculty on February 1, 2011 as Director of the Comprehensive Epilepsy Program and Chief of the Division of Child Neurology. Dr. Zupanc is one of the country’s most highly regarded pediatric epileptologists. She received her MD degree at UCLA, her pediatric training at the University of Washington and her pediatric neurology training at the University of Wisconsin. Her training in advanced epilepsy has been broad, with additional training at the University of Wisconsin, UCLA, and Stanford University. She has been instrumental in the development of comprehensive pediatric epilepsy programs at Mayo Clinic, Columbia University, and NYU School of Medicine. Since 2001, Dr. Zupanc has been the Director of the Comprehensive Epilepsy Program and Chief of the Child Neurology Division at Children’s Hospital of Wisconsin in Milwaukee. Dr. Zupanc is boarded in Pediatrics by the American Board of Pediatrics and in Child Neurology by the American Board of Psychiatry and Neurology. She is boarded in Clinical Neurophysiology by both the American Board of Psychiatry and Neurology and the American Board of Clinical Neurophysiology.
Dr. Zupanc is highly esteemed for her scholarship and contributions to the advancement of Pediatric Neurology. She has presented at numerous nationally and internationally recognized lecture series and is a much sought after speaker.
Among Dr. Zupanc’s many awards are those for teaching recognition and clinical care at each of the major institutions she has served. She has published many articles in peer reviewed journals, most notably the Journal of Pediatric Neurology regarding pediatric epilepsy surgery and outcomes, the efficacy of Felbamate, and infantile spasms. Dr. Zupanc is the author of 15 textbook chapters including the chapter on epilepsy surgery in the primary textbook in the field: Pediatric Neurology.
Links to Dr. Zumpanc’s videos and articles can be found here: http://www.choc.org/findadoc/index.cfm?id=P00348&pid=1643
