Berge Minassian, M.D. Division Chief, Pediatric Neurology Professor & Division Chief Endowed Title Jimmy Elizabeth Westcott Distinguished Chair in Pediatric Neurology School Medical School Department Pediatrics | Children's Medical Center Research Institute at UT Southwestern | Neurology | Neuroscience Graduate Programs Genetics, Development and Disease, Neuroscience You have reached the Academic Profile. For more information on the doctor and patient care, please visit the clinical profile. Biography Download Curriculum Vitae Berge A. Minassian, M.D., is a Professor in the Departments of Pediatrics, Neurology and Neuroscience at UT Southwestern. He is the Division Chief of Child Neurology and serves on the faculty of the Children's Medical Center Research Institute at UT Southwestern. Dr. Minassian is a pediatric neurologist whose clinical specialties are epilepsy, neurodegenerative diseases, and neurogenetic conditions. Two of his primary interests have been Lafora disease, for which his lab discovered the genes, and Gene Therapy for neurological diseases of children. He has published more than 120 scholarly articles and authored or contributed to 10 books, and his many professional honors include the Jacob's Ladder 2014 Norman Saunders International Research Prize for Outstanding Scientist, the American Academy of Neurology 2007 Dreifuss-Penry Epilepsy Award, the Canadian Paediatric Society 2008 Sanofi Pasteur Research Award, and the American Epilepsy Society 1996 Young Investigator Award. Dr. Minassian is a Fellow (Neurology) of the Royal College of Physicians and Surgeons of Canada.? Dr. Minassian went to the American University of Beirut for his undergraduate studies. He then completed medical school at McGill University in Montreal. He first did a residency in Adult Neurology at UCLA and the West Los Angeles VA. During his residency, he realized that his chief interest is root causes of neurological disease, which in important part include genetics. Since genetic diseases present mostly in childhood, he switched orientation to pediatric neurology. He learned pediatric epileptology and neurogenetics at The Hospital for Sick Children, in Toronto, Canada. He then joined the faculty at that institution as a clinician-scientist. Over 20 years there he was involved in the discovery of more than 20 neurological disease genes. Meanwhile, gene replacement therapy was becoming increasingly possible. Dr. Minassian moved to UT Southwestern to lead the Pediatric Neurology division here, and build a premiere Gene Therapy program. This included recruitment of a leading Gene Therapy Scientist, Dr. Steven Gray and his team. Together, Drs. Minassian and Gray direct the UT Southwestern gene therapy program. While Dr. Gray and colleagues’ labs perfect gene therapy technologies, Dr. Minassian is organizing the Pediatric Neurology faculty and trainees to be equipped to conduct gene therapy clinical trials. The marriage of research and the clinic will serve to build the Future of Medicine in Pediatric Neurology, a large portion of which consists of numerous rare single gene defect disorders. It will also extend in subsequent steps to Adult Neurology and Psychiatry and their common diseases, including Alzheimer disease, Parkinson disease, Schizophrenia and others, which also are genetic in their root causes. Education Medical School McGill University Faculty of Medicine (1992) Internship University of Toronto Hospitals, Canada (1993), Internal Medicine Residency West Los Angeles VA Medical Center (1996), Neurology Fellowship University of Toronto, the Hospital for Sick Children (1997), Pediatric Neurology Fellowship University of Toronto, the Hospital for Sick Children (1998), Neurogenetics Research Interest Gene therapy for childhood neurological diseases Lafora Disease Publications Featured Publications The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy. Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P, Seizure 2019 Oct 71 247-257 Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome. Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E, Epilepsia 2019 Sep 60 9 1881-1894 Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy. Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA, Ann Clin Transl Neurol 2019 Apr 6 4 807-811 Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases. Sullivan MA, Nitschke S, Skwara EP, Wang P, Zhao X, Pan XS, Chown EE, Wang T, Perri AM, Lee JPY, Vilaplana F, Minassian BA, Nitschke F, Cell Rep 2019 04 27 5 1334-1344.e6 EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis. Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA Epileptic Disord 2019 Feb 21 1 30-41 MYORG is associated with recessive primary familial brain calcification. Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V Ann Clin Transl Neurol 2019 Jan 6 1 106-113 Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A. Steward CA, Roovers J, Suner MM, Gonzalez JM, Uszczynska-Ratajczak B, Pervouchine D, Fitzgerald S, Viola M, Stamberger H, Hamdan FF, Ceulemans B, Leroy P, Nava C, Lepine A, Tapanari E, Keiller D, Abbs S, Sanchis-Juan A, Grozeva D, Rogers AS, Diekhans M, Guigó R, Petryszak R, Minassian BA, Cavalleri G, Vitsios D, Petrovski S, Harrow J, Flicek P, Lucy Raymond F, Lench NJ, Jonghe P, Mudge JM, Weckhuysen S, Sisodiya SM, Frankish A, NPJ Genom Med 2019 4 31 PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome. Alkhater RA, Scherer SW, Minassian BA, Walker S Ann Clin Transl Neurol 2018 Dec 5 12 1617-1621 Optical coherence tomography features in brothers with aspartylglucosaminuria. Goodspeed K, Harder L, Hughes S, Conger D, Taravella J, Gray SJ, Minassian B Ann Clin Transl Neurol 2018 Dec 5 12 1622-1626 Lafora Disease: A Review of Molecular Mechanisms and Pathology. Verhalen B, Arnold S, Minassian BA Neuropediatrics 2018 Oct Results 1-10 of 154 1 2 3 4 5 Next Last Books Featured Books The progressive myoclonus epilepsies. In Steinlein O, ed. Progress in Brain Research. Vol. 213. Minassian BA. (2014). Elsevier; 113-122. Imprinting and Angelman Syndrome. In Delgado-Escueta AV, Wilson WA, Olsen RW, Porter RJ, eds. Jasper's Basic Mechanisms of the Epilepsies. 3rd ed. Advances in Neurology, vol. 79. Lalande M, Minassian BA, DeLorey TM, Olsen RW. (1999). Raven Press; 421-429. Progressive Myoclonus Epilepsy of Lafora. In Noebels JL, Avoli M, Rogawski MA, Olsen RW, Delgado-Escueta AV, eds. Jasper's Basic Mechanisms of the Epilepsies. 4th ed. Serratosa JM, Minassian BA, Ganesh S. (2012). Oxford University Press; 874-877. Autosomal Recessive Progressive Myoclonus Epilepsy. In Avanzini G, Noebels J, eds. Genetics of Epilepsy and Genetic Epilepsies. Girard JM, Ramachandran N, Turnbull J, Minassian BA. (2009). John Libbey Eurotext; 229-246. Unverricht-Lundborg Disease. In Chapman K, Rho JM, eds. Pediatric Epilepsy Case Studies: From Infancy and Childhood through Adolescence. Andrade DM, Minassian BA. (2008). CRC Press; 251-256. On the Road to Tractability: The Current Biochemical Understanding of Progressive Myoclonus Epilepsies. In Blume WT, Carlen PL, Starrveld E, Wiebe S, Young GB, eds. Advances in Neurology. Vol. 97: Intractable Epilepsies. Lohi H, Chan EM, Scherer SW, Minassian BA. (2005). Lippincott Williams & Wilkins; 399-415. The history of progressive myoclonus epilepsies. In Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art. Genton P, Striano P, Minassian BA. (2017). Montrouge, France: John Libbey Eurotext; 1-10. Post-modern therapeutic approaches for progressive myoclonus epilepsy. In Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art. Minassian BA. (2017). Montrouge, France: John Libbey Eurotext; 199-204. Therapeutic Approaches to Inherited Metabolic Epilepsies. In Inherited Metabolic Epilepsies, 2nd ed, Pearl PL, ed. Verhalen B, Minassian BA (2018). New York, NY, Springer Publishing; 497-503 Neuronal ceroid lipofuscinoses. In Dulac O, Lassonde M, Sarnat HB, eds. Handbook of Clinical Neurology: Pediatric Neurology Part III. Vol. 113. Chabrol B, Caillaud C, Minassian BA. (2013). Elsevier; 1701-1706. Progressive myoclonus epilepsy. In Dulac O, Lassonde M, Sarnat HB, eds. Handbook of Clinical Neurology: Pediatric Neurology Part III. Vol. 113. Girard JM, Turnbull J, Ramachandran N, Minassian BA. (2013). Elsevier; 1731-1736. X-linked Myopathy with Excessive Autophagy. In Karpati D, ed. Structural and Molecular Basis of Skeletal Muscle Diseases. Minassian BA, Levy N. (2002). ISN Neuropath Press; 145-147. Progressive Myoclonus Epilepsies: State-of-the-Art. Minassian BA, Striano P, Avanzini G. (Ed.) (2017). Montrouge, France: John Libbey Eurotext. Lafora disease. In Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art. Turnbull J, Striano P, Genton P, Carpenter S, Ackerley CA, Minassian BA. (2017). Montrouge, France: John Libbey Eurotext; 49-78. Progressive Myoclonus Epilepsy with Polyglucosan Bodies - Lafora's Disease. In Fahn S, Frucht SJ, Hallett M, Truong DD, eds. Advances in Neurology. Vol. 89: Myoclonus and Paroxysmal Dyskinesias. Minassian BA. (2002). Lippincott Williams & Wilkins; 199-210. Neuronal ceroid lipofuscinoses. In Minassian BA, Striano P, Avanzini G, eds. Progressive Myoclonus Epilepsies: State-of-the-Art. Nita DA, Mole SE, Minassian BA. (2017). Montrouge, France: John Libbey Eurotext; 93-114. The history of progressive myoclonus epilepsies. In Progressive Myoclonus Epilepsies: State-of-the-Art Genton P, Striano P, Minassian BA (2017). Montrouge, France, John Libbey Eurotext Honors & Awards Jacob's Ladder International Research Prize for Outstanding ScientistNorman Saunders (2014) Leadership Award in E-InfrastructureOntario Research and Innovation Optical Network (ORION), in recognition of outstanding leadership in research and innovation in Ontario (2013) Benjamin Boshes Memorial Lectureship, Keynote SpeakerIsraeli Neurological Association Annual Meeting (2011) Canadian Paediatric Society Sanofi Pasteur Research AwardFor excellence in Canadian child health research (2008) Dreifuss-Penry Epilepsy AwardAmerican Academy of Neurology, for Independent contribution to epilepsy research (2007) Canada Research Chair in Pediatric Neurogenetics (2006) John Stobo Prichard AwardInternational Child Neurology Association (2006) Ted Hall Award, Best Biology PaperMicroscopy Society of America, Annual Meeting (2005) Certificate of AppreciationInternational Rett Syndrome Association (2004) Certificate of AppreciationBatten's Disease Research and Support Association (2002) Certificate of AppreciationCanadian Angelman Syndrome Society (2002-2004) Certificate of AppreciationAngelman Syndrome Foundation (1997) Young Investigator AwardAmerican Epilepsy Society (1996) Certificate of AppreciationCanadian Angleman Syndrome Society (1995-1998) Gertrude and Charles Clark Cancer Research FellowJewish General Hospital, McGill University (1987) Professional Associations/Affiliations American Academy of Neurology American Academy of Neurology, Neurogenetics Section - Founding Member Canadian Medical Association College of Physicians and Surgeons of Ontario Ontario Medical Association Royal College of Physicians and Surgeons Canada