PPT-How Brain Somatic Mutations Lead to Epilepsy

Dr Cyrus Boelman Neurology BC Childrens Hospital CLAE Biennial Meeting 2016 Disclosures None Case A Germline Mutation Case A 35 month old term non dysmorphic boy West syndrome. Background Information. Ten year old boy.. Was at a party and started shaking and convulsing.. Lately he has been overly aggressive and very angry. . Does not remember falling down, but he does remember an unpleasant odor when he did.. Ashley . Ferenchak. The Case (taken from the curriculum). A woman brings her 10-year-old son, Raymond, in to see you. He’s been overly aggressive and angry lately, but she has attributed this to her divorce from Raymond’s father. Last night, Raymond attended a party at his friend’s house. After a night of laser tag and little sleep, Raymond started shaking and convulsing. He stopped before his mom arrived, but she still wanted to get him checked out. Raymond does not really remember falling to the floor, but he does remember that he smelled a very unpleasant odor right before he went down.. MD, DM,. . FIACM, MNAMS. Associate Professor,. Department of Neurology,. King George’s Medical University, Lucknow. Epilepsy. MCQ-1. When do you label a “seizure” as “epilepsy”?. Presence of family history. Gaetha Mills, RN, CNRN. 4. bed monitoring unit (with 4 additional beds being constructed). 5 epilepsy fellowship trained . Epileptologists. An. . epilepsy fellowship trained . Neurosurgeon. 4 epilepsy trained neuropsychologists. MD, DM,. . FIACM, MNAMS. Associate Professor,. Department of Neurology,. King George’s Medical University, Lucknow. Epilepsy. MCQ-1. When do you label a “seizure” as “epilepsy”?. Presence of family history. J. Layne Moore, MD, MPH. Professor Neurology. Wright State University Boonshoft School of Medicine. Epilepsy. A disease known from antiquity. Initially thought to be from the attack of a spirit or demon. (Chapter 12 Section 4). Mutation. - . A . Change in Genetic . Information . Causes . can be: . 1. ) . Genetic (DNA proofreader does not catch mistakes) . in Replication . or Protein Synthesis. . 2. Introductions- who we are?. Amanda Pike- . Education Senior Program Manager, Epilepsy Foundation of MN. Jeannine Conway- . Pharm. D, University of MN, member of Professional Advisory Board of Epilepsy Foundation of MN. eMERGE. datasets. Ken Kaufman. CCHMC. 6-20-19. Somatic Mutations. RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues. Keren . Yizhak. , François . Aguet. , . Jaegil. Assistant Professor Medicine. Classify epilepsy and describe the epidemiology of epilepsy. Enlist the risk factors of epilepsy. Identify provoked and unprovoked seizure. Enlist the causes of epilepsy. Presented by: . Amit Levi. Class of 2022. Mentor:. Dr. . Xinbin. Chen. Department of Surgical & Radiological Sciences. P53 is a major tumor suppressor known as the “guardian of the genome”.. glioblastoma. genes and core pathways. By: Katie . Adolphsen. , Robin Aldrich, Brandon . Hu. , . Nate . Havko. The Cancer Genome Atlas: TCGA. Collaborative effort . $100 million pilot project. Funded by National Cancer Institute and the National Human Genome Research Institute of the National Institutes of Health. M.V.Sc Scholar. Bihar Veterinary College. B.A.S.U. Patna. VCM-604. What is Epilepsy-. It is a neurological disorder marked by sudden recurrent episodes of sensory disturbance, loss of consciousness, or convulsions, associated with abnormal electrical activity in the brain.. Overview. Noncomunicable. Disease. Recurrent . Sizzures. , Brief Episodes of involuntary movement may involve a part of the body (partial) or the entire body (generalized) and are sometimes accompanied by loss of consciousness and control of bowel or bladder function..