KCNA2 EPILEPSY - Key Persons
Alysha Applebaum received her bachelor's degree in sociology at UCLA and went on to become a paralegal. She worked in worker's compensation defense for several years before becoming a full time mother in 2017. She currently takes care of her two daughters, ages 3 and 1 years old. Her 3 year old, Ilana, has gain function KCNA2 and Alysha is a strong advocate on her behalf.
Dr. Lily C. Wong-Kisiel is a pediatric epileptologist at Mayo Clinic in Rochester, Minnesota. She is Associate Professor of Neurology and Pediatrics at the Mayo Clinic College of Medicine and Science and is the Program Director of the Mayo Clinic Epilepsy Fellowship. Dr. Wong-Kisiel's clinical and research interests are in the evaluation and treatment of medically refractory childhood epilepsy. She has lectured on pediatric epilepsy topics at national and international conferences. She serves in committees for the American Academy of Neurology, American Epilepsy Society, International League Against Epilepsy and Pediatric Epilepsy Research Consortium. Peer-reviewed manuscripts and book chapters authored and co-authored by Dr. Wong-Kisiel focus on the advanced noninvasive surgical planning for epilepsy surgery and treatment of genetic epilepsy syndromes.
Guido Rubboli MD is a neurologist and epileptologist working at the Danish Epilepsy Center in Dianalund, Denmark, and he is appointed Professor of Clinical Epileptology at the University of Copenhagen, Denmark. His clinical activity involves primarily adult epilepsy, difficult-to treat epilepsies, genetic epilepsies, and epilepsy surgery. His main fields of research include clinical and neurophysiological phenotyping of epilepsy syndromes, phenotype-genotype correlations of genetic epilepsies, presurgical evaluation, neurophysiology of epilepsy.
He has organized several national and international meetings focused on the pathophysiology, diagnosis and treatment of epilepsies. He is currently Co-Chairman of the Epilepsy Scientific Panel of the European Academy of Neurology and he is member of the ILAE Task Force on Transition in Care from Childhood to Adult. He is tutor and teacher at the Virtual Epilepsy Academy of the ILAE and member of the EpiCARE, European Reference Network.
Job Titles:
- Clinical Director and Head of the Department of Neurology and Epileptology at the Hertie Institute of Clinical Brain Research
- Department of Neurology and Epileptology
Prof. Dr. med. Holger Lerche is Clinical Director and Head of the Department of Neurology and Epileptology at the Hertie Institute of Clinical Brain Research, University of Tübingen, Germany. He was a consultant neurologist and Head of Epileptology in the Department of Neurology at the University of Ulm from 2001 to 2009, being a Heisenberg fellow of the DFG from 2003 to 2008 during which he also undertook research fellowships in London and Melbourne, before taking up his current position in Tübingen.
His main research interest is to unravel the genetics and pathophysiology of inherited epilepsies and related paroxysmal disorders with the goal of finding new therapies. The first pathophysiology-based personalized treatment options with existing drugs have been published and will be further pursued.
Holger Lerche is leading national and international research consortia. He is the current chair of the ILAE Genetics Commission (2017-2021), Editorial Board member of Epilepsia, and a former president of the German chapter of the ILAE.
McKayla Leber is the wife of a military officer from the United States. She is a full time stay-at-home mother of three young children. Her first born was diagnosed with KCNA2 in 2016. McKayla is a passionate advocate of well-balanced solutions that combine therapeutic, medical, educational, and spiritual support.
McKayla has a Bachelor of Science in Human Services, with an emphasis in Bible and Missions. She earned a Master of Arts in Theological Studies. As a non-denominational Christian, McKayla is dedicated to helping families who seek spiritual support through Scripture and connection to community.
Nancy Musarra - Founder, President, Treasurer
Job Titles:
- FOUNDER
- President
- Treasurer
- Licensed Clinical Psychologist
Nancy Musarra Ph.D. is a licensed clinical psychologist in Ohio, USA. She provides psychological and competency assessments to municipal courts and maintains a private practice.
She specializes in First Responder Trainings for police, fire, and EMS to help public safety professionals better understand how to deal with individuals diagnosed with Autism and Neuro-Developmental Challenges. After her daughter was born and diagnosed with KCNA2, Nancy initiated an international parent support group for KCNA2 families.
She developed the website ‘KCNA2 Epilepsy Global Connection' to support families around the world, and help them network with each other and gain information about effective treatment, therapy, education, and research options. Together, Nancy and her daughter Giana authored "The New Normal; 7 Things to Know as You Care for and Love a Child with Special Needs."
Oriana Horneck is an elementary school teacher with a bachelor's degree in psychology and a master's degree in elementary education. She and her husband, Brian, lived and taught internationally for eight years in Mexico, Brazil, and Bulgaria. Their son, Avery, was born and lived abroad with them, but when his needs became more significant due to his KCNA2 epilepsy, they returned to the USA where they currently reside in Portland, Oregon. Oriana and her family love the outdoors and are passionate about involving Avery in those pursuits. You can find them running with Avery in his jogger, biking with his trailer, and hiking with him in a pack.
Job Titles:
- CO - FOUNDER
- Secretary
- Vice President
Renee Swannack is a passionate advocate within the KCNA2 community.
Rikke Steensbjerre Møller, PhD, MSc is a molecular geneticist working as head of Department of Epilepsy Genetics and Personalized Medicine at the Danish Epilepsy Centre, Filadelfia. She is appointed professor of epilepsy genetics at University of Southern Denmark. Her main research fields of interest includes 1) Gene discovery in neurodevelopmental disorders and epilepsy 2) Electro-clinical characterization of genetic epilepsy syndromes 3) Functional characterization of genetic defects to understand their pathomechanisms 4) Genotype-phenotype-pharmacoresponse correlation studies 5) Develop new personalized therapies for genetic epilepsies. With a broad range of state-of-the-art human genetics and clinical skills, Rikke's team has discovered or contributed to the discovery of several different epilepsy genes, and their work have led to personalized treatment options for different forms of genetic epilepsies. She is member of EpiCARE, a European Reference Network for rare and complex epilepsies.
Steffen Syrbe is a medical doctor, currently working as child neurologist and head of the Division for Pediatric Epileptology at the University Hospital in Heidelberg, Germany. He has been working with children with epilepsy syndromes for over 15 years and during these years he has developed a strong interest in genetic causes of epilepsies and neurological diseases in childhood. He was part of the team that first identified alterations in KCNA2 as a cause of different neurological disorders with epilepsy starting in early childhood. He is still in contact with Sophie, the very first girl diagnosed in 2012, and also with her mother. He has since seen several children with KCNA2-related epilepsies and is still involved in many aspects of research of childhood epilepsy and ataxia.