SCN8A Gathering Chairs

Hillary Savoie, Ph.D

Founder and Director, The Cute Syndrome Foundation
Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering

Manoj Patel,
​Ph.D.

Associate Professor of Anesthesiology, University of Virginia
​Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering

John Schreiber, M.D.

Director of Epilepsy Genetics and Director of EEG​, Children's National Medical Center; Assistant Professor of Neurology and Pediatrics, ​George Washington University
​Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering

Michael Hammer, Ph.D.

Director of Genetics CORE and Professor of Neurology, University of Arizona​
Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering

SCN8A Gathering Presenters

​Ethan Goldberg, M.D. Ph.D.

Assistant Professor of Neurology and Neuroscience, The Children’s Hospital of Philadelphia & The University of Pennsylvania 
Director, The Epilepsy NeuroGenetics Initiative

Katrine M Johannesen, M.D.

Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Denmark
​

Marina Trivisano, M.D., Ph.D.

Neuroscience Researcher, Ospedale Pediatrico Bambino Gesù, Rome

​Miriam Meisler, Ph.D.

Professor of Human Genetics and Professor of Neurology, University of Michigan

​Ian Wenker, Ph.D.

​Research Associate, University of Virginia School of Medicine

​Marion Wittmann, Ph.D.

VP of Biology and Toxicology, Praxis Precision Medicines,

Eric R Wengert

Graduate Student, Manoj Patel Lab, University of Virginia

SCN8A Family Education Presenters

Carla Schad, M.D.

Sr. Medical Science Liaison, Zogenix. SPNS Board Member.

Noam N Butterfield, Ph.D., P.M.P.​

Senior Director, Clinical Science, Xenon Pharmaceuticals Inc.

Laurie Bailey

Sr. Manager, Medical Affairs, Zogenix

Cynthia L Harden, M.D., F.A.E.S.

Therapeutic Head of Epilepsy, Xenon Pharmaceuticals Inc.

Speaker Bios

Hillary Savoie, Ph.D.

Founder and Director, The Cute Syndrome Foundation
Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering
Hillary Savoie, PhD is the Founder and Director of The Cute Syndrome Foundation. Her daughter Esmé has mutations in PCDH19, SCN8A, TBL1XR1, and MAP 3K7--making such a complex genetic puzzle that she's been written about in the Wall Street Journal. In addition to her efforts with TCSF, Hillary writes personal essays and reported features about life with medically-complex children for Romper.com. Her stories about Esmé have also been featured on the New York Times Parenting Blog, the podcast Story Collider, among others.

​Manoj Patel, Ph.D. ​

Associate Professor of Anesthesiology, University of Virginia
​Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering
Dr. Patel earned his Ph.D. in Physiology at the University of Coventry, UK. After completing his Ph.D., Dr. Patel continued his electrophysiology training as a postdoc at the University of Virginia, USA, University of Bristol, UK and the University of Cambridge/Pfizer GRD, UK. Dr. Patel returned to the University of Virginia in 2000 when he began establishing his own research laboratory. Dr. Patel is currently an Associate Professor within the department of Anesthesiology at the University of Virginia. 
Dr. Patel’s research interests are to better understand the role of voltage-gated ion channels, particularly sodium (Na) channels, in the development of epilepsy. His research has focused on understanding the importance of Na channels in establishing and facilitating the neuronal hyper-excitability associated with epileptic seizures. Specifically, his research has shown that one particular Na channel isoform, Nav1.6, is up-regulated in an animal model of temporal lobe epilepsy and plays a crucial role in facilitating neuronal hyperexcitability. More recently, his research has focused on the mechanism by which Nav1.6 gain-of-function and loss-of-function mutations can lead to abnormal Na channel activity and epileptic encephalopathy.  These studies are carried out in collaboration with Dr. Miriam Meisler (University of Michigan). ​

John Schreiber, M.D.

Director of Epilepsy Genetics and Director of EEG​, Children's National Medical Center
Assistant Professor of Neurology and Pediatrics, George Washington University
​Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering
Dr. Schreiber, Assistant Professor of Neurology and Pediatrics at Children’s National Hospital graduated cum laude from University of Maryland School of Medicine in 2006. While there, he won the Marshall L. Rennels Award for Excellence in Neuroscience and was a member of AOA and the Gold Humanism Honor Society. He completed Pediatrics and Child Neurology training at Children’s Hospital in 2011. Before returning to Children’s National in 2013, he served as an Epilepsy and Clinical Neurophysiology Fellow at the National Institutes of Health, and volunteered as a Child Neurology consultant for its Undiagnosed Diseases Program. Dr. Schreiber continues as a co-investigator in a protocol at the NIH, employing transcranial magnetic stimulation designed to examine the effects of a novel therapeutic agent in succinic semialdehyde dehydrogenase deficiency. He is also the Principal Investigator at Children’s National for its Neurogenetics Registry protocol, for the multi-disciplinary SCN8A-related epilepsy clinic, in a protocol examining cardiac strain in patients with status epilepticus or medically refractory epilepsy, and in several other industry-sponsored studies. His primary clinical and research interests are in the evaluation and management of epilepsy, specifically in rare genetically-mediated epilepsies. He established and directs the Epilepsy Genetics program at Children’s National and serves as the director of electroencephalography for Children’s National.​
Presenting: "Multi-Disciplinary SCN8A Clinic and Improving Access to Expert Care"

Michael Hammer, Ph.D.

Director of Genetics CORE and Professor of Neurology, University of Arizona​
Co-Chair: SCN8A Annual Clinician, Researcher, and Family Gathering
​Michael Hammer PhD is a Research Scientist at the University of Arizona, Director of the UA Genetics Core (UAGC), and Associate Director of the Bio5 Institute. He has appointments in the Department of Neurology, the Steele Children's Research Center, and the University of Arizona Cancer Center. Dr. Hammer’s lab discovered the first case of an epileptic encephalopathy caused by a mutation in SCN8A by whole genome sequencing in a family quartet, and has utilized exome sequencing to identify genetic variants associated with severe childhood epilepsies. His laboratory also pursues studies to identify modifier genes that alter the expression of major genes and signaling pathways that contribute to clinical variability in SCN8A-related epilepsy. In 2014, he established the SCN8A community website (SCN8A.net), which hosts a registry designed to fully describe the phenotypic spectrum associated with variants in SCN8A, and his current research focuses on mouse models to discover physiological mechanisms underlying the development of SCN8A epilepsy and to test the therapeutic value of cannabinoids in reducing seizure burden and improving quality of life.
Presenting: "SCN8A: Registry Update and 2020 Drive"

Ethan Goldberg, M.D. Ph.D.

 Assistant Professor of Neurology and Neuroscience, The Children’s Hospital of Philadelphia & The University of Pennsylvania 
Director, The Epilepsy NeuroGenetics Initiative
Ethan Goldberg is Assistant Professor of Neurology and Neuroscience at The Children’s Hospital of Philadelphia and The University of Pennsylvania in Philadelphia, PA, USA, and Director of The Epilepsy NeuroGenetics Initiative. He is an Attending Physician in the Neurogenetics Clinic at CHOP. He also leads a basic and translational biomedical research laboratory investigating mechanisms of epilepsy in experimental systems with the goal of understanding how genetic variation leads to epilepsy and leveraging this information towards the development of novel treatments and cures for epilepsy.
Presenting: “Insights into SCN8A variant pathogenesis and anti-seizure therapy from a single center cohort”

Katrine M Johannesen, M.D.

Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Denmark
​Medical Doctor from Denmark, have worked with epilepsy genetics the last five years, and special focus have been on the channelopathies, among these SCN8A. At the Danish Epilepsy center we follow all the Danish SCN8A patients, and have a large European network. Five publications on SCN8A so far, and more to come. Our focus currently is on treatment and the early development of SCN8A children. 
Presenting: "SCN8A-related disorders: correlations in phenotype and epilepsy characteristics with including functional effects"

Marina Trivisano, M.D., Ph.D.

Neuroscience Researcher, Ospedale Pediatrico Bambino Gesù, Rome
Marina Trivisano has been working since 2014 as Paediatric Neurologist in the Unit of Rare and Complex Epilepsy of Neuroscience Department at Bambino Gesù Children’s Hospital, IRCCS in Rome, Italy. She received Medical Degree in 2008, Neurology Specialization in 2014, and PhD in 2017. Her main area of expertise is clinical and EEG characterization of rare genetic epilepsies as well as of other epileptic syndromes. She is member of the Italian League Against Epilepsy. She is actively involved in research of genetic epilepsies and author of more than 50 peer-reviewed papers and many book chapters. She has been involved in numerous clinical trials on drug-resistant epilepsies.​
Presenting: "Autonomic signs in SCN8A developmental and epileptic encephalopathy"

Ian Wenker, Ph.D.

​Research Associate, University of Virginia School of Medicine
Dr. Wenker holds an MS from Wright State University and a PhD from the University of Connecticut. For his PhD thesis, he studied intrinsic properties of brainstem cardiorespiratory neurons and astrocytes with brain slice patch‐clamp recording techniques and earned a predoctoral fellowship from the American Heart Institute. He then trained in the laboratory of Dr. Patrice Guyenet at the University of Virginia, Department of Pharmacology, earning a postdoctoral fellowship from the NIH. There he explored the brainstem circuitry involved in autonomic reflex control of the cardiorespiratory system utilizing optogenetic neuronal stimulation and telemetric biopotential recording. Currently, Ian is investigating the role of the autonomic and respiratory systems in mouse models of SUDEP, in the laboratory of Dr. Manoj Patel at the University of Virginia, Department of Anesthesiology.
Presenting: "Cardiorespiratory dysfunction in two mice models of SCN8A epilepsy"​ 

Miriam Meisler, Ph.D.

Professor of Human Genetics and Professor of Neurology, University of Michigan
Miriam Meisler, Ph. D., is Professor of Human Genetics and Neurology at the 
University of Michigan.  Her research program is focused on rare genetic disorders, 
with an emphasis on gene discovery and disease mechanisms.  She discovered the mouse Scn8a gene in 1995 and has studied several spontaneous mouse mutations that cause movement and behavioral disorders.  In 2012, she collaborated with Michael Hammer to characterize the first patient mutation in SCN8A encephalopathy, N1768D.  She has investigated the effects of ten patient mutations on the function of the sodium channel gene, describing gain-of-function effects that produce an over-active channel.  Her laboratory has generated two mouse models of SCN8A encephalopathy with patient mutations N1768D and R1872W.  Activation of the Scn8a mutation specifically in the excitatory neurons of the forebrain is sufficient to cause seizures in the mice.  Most recently, her laboratory is testing anti-sense oligonucleotides (ASOs) as a treatment to reduce the expression of the SCN8A gene and prevent seizures.   ​
Presenting: "ASO therapy in a mouse model of SCN8A encephalopathy"

Marion Wittmann, Ph.D.

VP of Biology and Toxicology, Praxis Precision Medicines
Marion is VP of biology and toxicology at Praxis Precision Medicines, where she is responsible for translating novel target discoveries into new therapeutics. Marion has over 18 years of experience in drug discovery and development.
Marion joined Praxis from Biogen, where she led the preclinical Alzheimer’s research group. In her role as director of AD research, she moved several preclinical programs into clinical development and established the AD research strategy at Biogen. Before that she established a state-of-the-art electrophysiology lab as a new technology at Biogen, that continues to support research and translational projects in ALS, Multiple Sclerosis, Parkinson’s Disease, and AD research. Prior to Biogen, Marion worked at Merck & Co. where she led an in vitro and in vivo physiology and pharmacology group and conducted target discovery, drug discovery, and translational pharmacology research in the areas of Alzheimer’s disease, Parkinson's disease, and schizophrenia. 
Marion is an electrophysiologist by training and earned her PhD in neurobiology from the Eberhard-Karls-University in Tuebingen, where she graduated with honors under the supervision of Dr. H.U. Schnitzler (University of Tuebingen) and Dr. P. Jeffrey Conn (Emory University). Before joining Merck full time, she conducted a postdoctoral fellowship at Merck Research labs in the Department of Neuroscience. 
Presenting: "PRAX-330, a novel persistent sodium current blocker for the treatment of SCN8A epileptic encephalopathy"

Carla Schad, M.D.

 Sr. Medical Science Liaison, Zogenix. SPNS Board Member.
Carla Schad, MD, MS is trained as a Pediatric Neurologist and has bench research experience in neuroscience, with emphasis on the serotonergic system.  She has worked for Pharma Industry since 2005; with focus primarily in neurology.  In 2016, she joined Zogenix Medical affairs.  Carla’s primary responsibility is to function as the liaison between Zogenix and clinicians/researchers.  Due to her background in both general pediatrics and child neurology, she also collaborates with the advocacy community; and has partnered with the Sibling Voices Survey and Sibling Project since its inception.  Carla has strong dedication to both the patient and family; and embraces her peer relationship with the healthcare provider.
Presenting: "Impact of Severe Childhood Epilepsy on Siblings—Findings from the Sibling Voices Survey"

Laurie Bailey

Sr. Manager, Medical Affairs, Zogenix​
Laurie Bailey has been working in the Pharma Industry since 2010.  In 2013 she joined Zogenix and for the last five years has been in charge of leading the company’s patient advocacy initiatives in North America. In addition to working with the patient community, other responsibilities include global scientific meeting organization, assisting legal with corporate compliance/transparency, and grants and IIS/CRS management support. One of Laurie’s major accomplishments was the development and implementation of a groundbreaking project called the Sibling Voices Survey which was designed with input from the Dravet Community to gain knowledge and understanding on the impact of Dravet Syndrome on other siblings in the household.
Presenting: "Impact of Severe Childhood Epilepsy on Siblings—Findings from the Sibling Voices Survey"

Noam N Butterfield, Ph.D., P.M.P.

Senior Director, Clinical Science, Xenon Pharmaceuticals Inc.
Noam N Butterfield, PhD, PMP, has over 18 years’ experience in clinical research and drug development. Noam joined Xenon Pharmaceuticals in 2019 as the Senior Director, Clinical Science.  He leads Xenon’s pediatric clinical development programs. His current focus is on the development of XEN901, Xenon’s selective inhibitor of NaV1.6 for the treatment of SCN8A-epileptic encephalopathy, and XEN496 (active ingredient ezogabine), a Kv7 potassium channel modulator for the treatment of KCNQ2-related epilepsies.  Prior to Xenon, Noam was Senior Director, Clinical Development at Aquinox Pharmaceuticals, where he led development of a novel medication for the treatment of pain from phase 2 to completion of a multinational phase 3 clinical trial.  Before that, he contributed to various drug development programs at other biopharmaceutical companies, including a key role as senior clinical scientist for the successful development and approval of a novel antiarrythmic, Brinavess, at Cardiome (Correvio Pharma).  Noam earned a BSc in biology, and a PhD in Pharmacology & Therapeutics from the University of British Columbia. Noam enjoys ice hockey, kayaking, biking, and spending time with family enjoying the outdoors around his home in North Vancouver, Canada.
Presenting: "Xenon: Update on XEN901"

Cynthia L Harden, M.D., F.A.E.S.

Therapeutic Head of Epilepsy, Xenon Pharmaceuticals Inc.
Cynthia L. Harden, MD, FAES, joined Xenon Pharmaceuticals Inc. in September, 2018 as the Therapeutic Head of Epilepsy.  She is involved in the clinical development of both adult and pediatric clinical epilepsy programs.  Prior to joining Xenon, Dr. Harden was the System Director of Clinical Epilepsy for the Mount Sinai Health System in New York City.  She has had a long and productive career in academic neurology, and became Professor of Neurology at the Weill Cornell School of Medicine in 2007.  Her clinical and research focus was clinical epilepsy. Dr. Harden graduated from the University of Wisconsin, Eau Claire with a degree in chemistry.  She then achieved her MD degree at the University Of Wisconsin School Of Medicine in Madison Wisconsin.  Dr. Harden trained in internal medicine for two years at St. Luke's Hospital in Harlem, NY, followed by a neurology residency at Mount Sinai Hospital, also in NYC.  She completed a fellowship in clinical neurophysiology at Albert Einstein College of Medicine in the Bronx, NY.  She enjoys living in New York City and has one daughter.
Presenting: "Xenon: Update on XEN901"

Eric R Wengert

Graduate Student, Manoj Patel Lab, University of Virginia
Eric grew up in central Pennsylvania and attended Bucknell University where he graduated summa cum laude with a B.S. in Neuroscience in 2016. He then joined the lab of Manoj Patel as a neuroscience graduate student in 2017 at the University of Virginia. Eric has been involved with characterization of novel SCN8A mutations and has worked to understand the mechanisms underlying SCN8A encephalopathy. His current work focuses on the contribution of inhibitory interneurons to the disease. Outside of the lab, Eric enjoys playing music, reading, cooking, and spending time with his wife Ellie and his cat Finley.
Presenting: "SCN8A 101"