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.

Suzanne D. DeBrosse, MD

Suzanne D. DeBrosse, M.D. is a clinical geneticist in the Center for Human Genetics at University Hospitals Cleveland Medical Center, and an Associate Professor of Genetics and Genome Sciences, Pediatrics, and Neurology 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 Cleveland Medical Center. Dr. DeBrosse is board certified in Pediatrics, Neurology with Special Qualifications 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. 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/pubmed/?term=ozelius

Hendrik Rosewich, MD

Dr. Rosewich, MD is an Associate Professor and Assistant Medical Director in the Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology at the University Medical Center at Georg August University in Goettingen, Germany. His training in medicine, pediatrics, and pediatric neurology has been broad at the Heinrich Heine University in Duesseldorf, Germany, in Vienna, Austria, in Zurich, Switzerland, and Phoenix, AZ, USA. He did a research fellowship at the McKusick-Nathans Institute of Genetic Medicine at the Johns Hopkins University, Baltimore, MD. USA (Professor David Valle). From the very beginning his clinical and basic research interests focused on the etiology and pathogenesis of rare neurometabolic diseases, including peroxisomal disorders like Zellweger-Syndrome and X-linked Adrenoleukodytrophy as well as rare Movement Disorders like Alternating hemiplegia of childhood. Besides primary care for affected children with these disorders he is now especially interested in the investigation of the pathogenesis of Alternating hemiplegia of childhood and X-linked Adrenoleukodystrophy to answer essential questions for the development of therapeutic options. A list of selected publications can be found here http://www.pubfacts.com/author/Hendrik+Rosewich

Terence Sanger, MD, PhD

Professor of Electrical Engineering at the University of California Irvine (UCI), Vice Chair of Research, Pediatrics, (UCI) Director of the Pediatric Movement Disorders Clinic and Deep Brain Stimulation Program at Children’s Hospital of Orange County (CHOC), and the Vice President, Chief Scientific Officer at CHOC. (Dr. Sanger is a member of CHOC’s medical staff and is tenured faculty in the department of pediatrics at UC Irvine)

Dr. Terence Sanger, MD, PhD holds an SM in Applied Mathematics (Harvard), PhD in Electrical Engineering and Computer Science (MIT), and MD (Harvard), with medical specialization in Child Neurology and Movement Disorders. Prior to CHOC, Dr. Sanger served as Provost Professor in the biomedical engineering, neurology, and biokinesiology departments at the University of Southern California. He was an attending neurologist at Children’s Hospital Los Angeles, where he served as Director of the Pediatric Movement Disorders Program, the David Lee and Simon Ramo Chair in Health Sciences and Technology, and the Founding Director of the Health, Technology and Engineering Program at The University of Southern California. Previously, he was a tenured Professor of child neurology at Stanford University and on the medical staff at Lucille Packard Children’s Hospital.

Dr. Sanger’s research focuses on understanding the origins of pediatric movement disorders from both a biological and a computational perspective. The primary goal of his research is to discover new methods for treating children with disorders of developmental motor control, including dystonia, chorea, ataxia, spasticity, and dyspraxia. His research includes computational neuroscience and large-scale neural circuit modeling of basal ganglia and cerebellum, nonlinear signal processing, machine learning, and control theory applied to robot models of motor disorders, and processing of electrophysiological data from children with implanted electrodes. Ongoing research also includes the development of electromyography-controlled soft exoskeleton orthotics for assistance with upper limb movement in children with cerebral palsy. More information about the Sanger Lab and a list of selected publications can be found here http://sangerlab.org/index.html

Masayuki Sasaki, M.D.

Director, Tokyo Children Rehabilitation Hospital, Japan since April 1st, 2023. After he graduated from Niigata University School of Medicine in 1983, he started clinical training in Pediatrics at Niigata University Hospital. In 1988 he started clinical training for Child Neurology at the National Center of Neurology and Psychiatry (NCNP). From 1992 he studied myelin chemistry at the National Institute of Health (NIH, Bethesda, MD, USA) for two years. Since 1994 he had been working as a clinical child neurologist at NCNP and has been involved in research works on mainly neuroimaging on epilepsies, inherited metabolic disorders, and autistic spectrum disorders. He began to study AHC in 1999. He was a Chief of the Department of Child Neurology, NCNP, from 2002 to 2023. He is an advisor doctor of the Japanese AHC Family Association. A list of select publications can be found here http://www.researchgate.net/profile/Masayuki_Sasaki2/citation

Kenneth Silver, MD, MSc, F.R.C.P.

Kenneth Silver, M.D., is a pediatric neurologist at Shriners Children’s Chicago and co-director of the muscular dystrophy MDA-affiliated clinic at the Shriners Children’s 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 include the brain, spinal cord, and muscles.

Dr. Silver was a previous 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 also an associate professor at McGill University in Canada and previously worked at Shriners Children’s Canada.

Areas of interest include treating spasticity in children with cerebral palsy, neuromuscular disorders, neurogenetics, and movement disorders.

Dr. Silver has had for many years a research and clinical interest in Alternating Hemiplegia of Childhood.

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, the University of Washington Department of Neurology

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/marcio-sotero-de-menezes-m

Matthew T. Sweney, MD., M.S.

Dr. Sweney is a pediatric neurologist and epileptologist who focuses on the diagnosis and treatment of drug-resistant pediatric epilepsy. He is the Medical Director of the Comprehensive Pediatric Epilepsy Program at Primary Children’s Hospital. He is board certified in General Pediatrics, Neurology, Epilepsy, and Clinical Neurophysiology. He participates in all aspects of pediatric epilepsy care, including medication management, non-medication alternatives such as the ketogenic diet and vagal nerve stimulation, as well as palliative and curative epilepsy surgery. He remains active in ongoing studies into new potential anti-seizure medications and is committed to providing advanced epilepsy care to children of the intermountain region. He has been an active contributor to the AHC community for over a decade and continues to see patients and families impacted by the disease. A list of selected publications can be found here https://www.doximity.com/pub/matthew-sweney-md

Sho Yano, MD., PhD

Dr. Yano is a pediatric neurologist and medical geneticist who is doing research to understand why people with different genetic changes in ATP1A3 can have different symptoms. He completed his MD, Ph.D. (in molecular genetics and cell biology), and child neurology residency training at the University of Chicago, then moved to the US National Institutes of Health for medical genetics fellowship. He is board-certified in pediatrics, child neurology, and medical genetics.

Currently, Dr Yano works in the biophysics laboratory of Dr. Miguel Holmgren, where he studies the molecular differences between variants (genetic changes) in ATP1A3 that cause AHC and other ATP1A3-related diseases. For example, he measures how these variants affect electrical currents generated by ATP1A3 proteins. One finding from this project is that some people with symptoms that seem different from AHC, such as leg spasticity or fever-induced episodes of weakness and encephalopathy, actually also have ATP1A3-related diseases. In the future, their research group hopes to use these results to search for new AHC treatments and to find ways to measure whether new treatments work.

Mary Zupanc M.D.

Dr. Zupanc was a Clinical Professor of Pediatrics and Neurology at the University of California-Irvine and Co-Medical Director of the Children’s Hospital of Orange County Neuroscience Institute. She is board certified in pediatrics by the American Board of Pediatrics, and in pediatric neurology, clinical neurophysiology, and epilepsy by the American Board of Psychiatry and Neurology.

Dr. Zupanc has been recognized for her scholarship and contributions to the advancement of pediatric neurology, having published many articles in peer-reviewed journals on the topics of infantile spasms, intractable epilepsy syndromes and appropriate treatments, as well as pediatric epilepsy surgery. She has also published articles on Alternating Hemiplegia of Childhood and the transition of care from pediatrics to adult care. In addition, she is the author of 16 textbook chapters on pediatric epilepsy, pediatric epilepsy surgery, and reproductive health in adolescent girls with epilepsy.

In October 2021, at the Child Neurology Society Meeting in Boston, Dr. Zupanc had the honor of receiving the Child Neurology Society’s Arnold P. Gold Humanism in Medicine Award, given to the child neurologist who “displays compassion and empathy in the delivery of patient care; shows respect for patients, families, and co-workers; demonstrates cultural sensitivity in working with patients and families from diverse backgrounds; displays effective, empathic communication and listening skills; understands a patient’s and families’ need for interpretation of complex medical diagnoses and treatment and makes an effort to ensure understanding; sensitive to patient’s psychosocial well-being; comprehends and shows respect for patient’s and families’ viewpoints; engenders trust and confidence.” It is one of the highest honors that a child neurologist can receive. Links to Dr. Zumpanc’s videos and articles can be found here: http://www.choc.org/findadoc/index.cfm?id=P00348&pid=1643

Board of Directors

The AHCF Board of Directors is comprised of volunteers with a wide range of professional experience who are passionate about improving the lives of AHC patients. The application of their professional skills and a strong commitment to the mission of the foundation has earned research community support and driven efficient financial management.

Meet Us

Big News from Liu Lab – Gene Editing Project

Join the Freedom Run on July 6