Berge Minassian, M.D.

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.

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

• Gene therapy for childhood neurological diseases
• Lafora Disease

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

 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

• “Jacob's Ladder International Research Prize” for Outstanding Scientist
  Norman Saunders (2014)
• Leadership Award in E-Infrastructure
  Ontario Research and Innovation Optical Network (ORION), in recognition of outstanding leadership in research and innovation in Ontario (2013)
• Benjamin Boshes Memorial Lectureship, Keynote Speaker
  Israeli Neurological Association Annual Meeting (2011)
• Canadian Paediatric Society Sanofi Pasteur Research Award
  For excellence in Canadian child health research (2008)
• Dreifuss-Penry Epilepsy Award
  American Academy of Neurology, for Independent contribution to epilepsy research (2007)
• Canada Research Chair in Pediatric Neurogenetics
  (2006)
• John Stobo Prichard Award
  International Child Neurology Association (2006)
• Ted Hall Award, Best Biology Paper
  Microscopy Society of America, Annual Meeting (2005)
• Certificate of Appreciation
  International Rett Syndrome Association (2004)
• Certificate of Appreciation
  Batten's Disease Research and Support Association (2002)
• Certificate of Appreciation
  Canadian Angelman Syndrome Society (2002-2004)
• Certificate of Appreciation
  Angelman Syndrome Foundation (1997)
• Young Investigator Award
  American Epilepsy Society (1996)
• Certificate of Appreciation
  Canadian Angleman Syndrome Society (1995-1998)
• Gertrude and Charles Clark Cancer Research Fellow
  Jewish General Hospital, McGill University (1987)

• 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