Tuesday, March 1 (1:00 pm – 2:30 pm EST)
Fiona Baumer, MD
Assistant Professor of Neurology
Stanford University School of Medicine
Many childhood epilepsies and epileptic encephalopathies include both epileptic and nonepileptic motor phenomena, often with similar semiology. The paroxysmal, stereotyped and overlapping nature of these symptoms can make diagnosis and management challenging for both physicians and families. This seminar will highlight disorders that present with both seizures and abnormal movements, including photosensitive generalized epilepsies (such as Jeavons and Sunflower Syndrome) and conditions with defined genetic etiologies (including those related to the TBC1D24, GNAO1, SCN8A, PRRT2, SLC2A1, and ATP1A3 genes). The session will focus on the phenotypic features of these syndromes, challenges that arise in diagnosis and treatment, and management pearls including discussion of disease-specific therapies under development.
Topics & Speakers:
Generalized Epilepsies with Unusual Movements: Where Does the Seizure Stop and the Movement Disorder Start?
Elizabeth A. Thiele MD PhD, Professor of Neurology
Massachusetts General Hospital, Harvard Medical School
Clinical Presentation of Genetic Conditions Associated with Epilepsy and Movement Disorders
Kristina Julich, MD, Assistant Professor of Neurology
UT Health Austin, Dell Medical School
Treatment Approaches in Mixed Movement Disorder Epilepsy Syndromes Bhooma Aravamuthan, MD, DPhil, Assistant Professor of Neurology
Washington University School of Medicine
St. Louis, MO
Speaker & Organizer Brief Biographies
Elizabeth Thiele, MD PhD is the director of the Pediatric Epilepsy Program and the Center for Dietary Therapy in Epilepsy at Massachusetts General Hospital, Harvard
Medical School. She has established a program to clinically and genetically characterize Sunflower Syndrome, and has conducted a clinical trial of fenfluramine to treat handwaving episodes. Recent related publications include:
- Barnett JR, Fleming BM, Geenen KR, Sourbron J, Freedman JH, Bruno PL, Thiele EA. Characterizing Sunflower syndrome: a clinical series. Epileptic Disord. 2020 Jun 1;22(3):273-280.
- Geenen KR, Patel S, Thiele EA. Sunflower syndrome: a poorly understood photosensitive epilepsy. Dev Med Child Neurol. 2020 Oct 31:[Epub ahead of print].
- Sourbron J, Ayub N, Luo Y, Thiele EA. Ictal EEG in sunflower syndrome: Provoked or unprovoked seizures?. Epilepsy Behav. 2020 Dec;113:107470
Kristina Julich, MD is an Assistant Professor at Dell Medical School/UT Health Austin. She is board-certified in Child Neurology in the US, board-certified in Pediatrics and Clinical Neurophysiology in Germany, and is a member of CNS and AES. She trained in Child Neurology and Neurogenetics at Boston Children’s Hospital and currently directs the comprehensive Neurogenetics program at UT Austin, where she specializes in evaluation, counseling and treatment of children with genetic epilepsies, brain malformations and neurocutaneous disorders. She is focused on quality improvement, disparities in care and access to genetic workup and counseling for individuals with genetic epilepsies and is seeking to include mathematical models into medical decision-making processes. She is also a core provider in the TSC clinic and the comprehensive ketogenic diet program.
Bhooma Aravamuthan, MD, DPhil is an Assistant Professor of Neurology at the Washington University School of Medicine in St. Louis, MO. She completed her child
neurology training at Boston Children’s Hospital and her movement disorders fellowship at Boston Children’s Hospital and Massachusetts General Hospital. Her clinical and research expertise is in diagnosing and understanding the pathophysiology of dystonia following neonatal brain injury. As a pediatric movement disorders attending, she has significant expertise in the treatment of mixed movement disorder epilepsy syndromes.
Fiona Baumer, MD is an Assistant Professor of Neurology at Stanford University School of Medicine. She completed her child neurology training at Boston Children’s Hospital and her epilepsy fellowship at Stanford School of Medicine, where she is an attending physician and conducts research on the impact of interictal epileptiform discharges on cognition. She is interested in the interaction between epilepsy and movement disorders, particularly in Sunflower Syndrome, and is leading the Pediatric Epilepsy Research Consortium interest group on this condition. Relevant publications to this seminar include:
- Baumer FM, Porter BE. Clinical and electrographic features of sunflower syndrome. Epilepsy Res. 2018 May;142:58-63.
- Madani N, O’Malley JA, Porter BE, Baumer FM. Lacosamide-induced Dyskinesia in Children with Intractable Epilepsy. J Child Neurol. 2020 Sep;35(10):662-666.
- Beinvogl BC, Rosman NP, Baumer FM, Rodan LH, Forster CS, Kwon AH, Berry GT. A 10-Month-Old with Intermittent Hypotonia and Paralysis. Pediatrics. 2016 Jul;138(1):e20151896. *A case of alternating hemiplegia of childhood.
Preliminary COI for organizer and proposed speakers.
- Drs. Fiona Baumer and Kristina Julich have no conflicts of interest to disclose.
- Dr. Bhooma Aravamuthan serves as a consultant for Neurocrine Biosciences.
- Dr. Elizabeth Thiele serves as a consultant for the following companies: GW Pharma/Greenwich biosciences, Zogenix, Biocodex, Eisai, Aquestive, West Therapeutics, Nobelpharma, RegenexBio, LivoNova. She additionally receives grant/ research funding from GW Pharma and Zogenix.
NOTE: All CNS live-streamed webinars will be posted on the CNS website (“Craft” section), usually within one week of original presentation. The first five previously recorded webinars will be posted later this week.