Share:

Berge A. Minassian, MD $$

Pediatric Neurologist

Professor at UT Southwestern Medical Center
Division Director at Children's Health

Languages Spoken:
English
UT Southwestern Pediatric Group

Biography

Berge A. Minassian, M.D., is a pediatric neurologist who practices at Children’s Health℠. Dr. Minassian specializes in the expert diagnosis, care and study of children who have epilepsy, neurodegenerative diseases and neurogenetic conditions.

Dr. Minassian leads the Neurosciences Center at Children’s Health and is the Divisin Chief of the Pediatric Neurology Division at UT Southwestern. He also serves on the faculty of the Children’s Medical Center Research Institute at UT Southwestern.

During much of his career, Dr. Minassian has been fascinated with neurogenetics, the role of genes in the development and function of the nervous system.

His special interests include Lafora disease, a severe form of epilepsy for which Dr. Minassian’s lab discovered the genes. He also has a special interest in adult polyglucosan body disease (APBD), a rare condition which affects the nervous system.

Dr. Minassian earned his medical degree from McGill University Faculty of Medicine in Montreal and performed a neurology residency at West Los Angeles Veterans Affairs Medical Center. He then completed clinical and postdoctoral research fellowships at the University of Toronto’s Hospital for Sick Children, where he focused on pediatric neurology, epileptology, and molecular genetics and neurogenetics.

Dr. Minassian is a neurology fellow of the Royal College of Physicians and Surgeons of Canada. He has received many professional honors including the Jacob's Ladder 2014 Norman Saunders International Research Prize for Outstanding Scientist and the American Academy of Neurology 2007 Dreifuss-Penry Epilepsy Award.

Dr. Minassian with colleague Dr. Steven Gray is leading the development of a Gene Therapy Program at UT Southwestern in collaboration with Children’s Health. This transformative program will aim to bring gene replacement therapy to numerous genetic brain diseases of children. 

Education and Training

Medical School
McGill University (1992)
Internship
University of Toronto (1993), Internal Medicine
Residency
University of California, Los Angeles (1996), Neurology
Fellowship
University of Toronto (1998), Pediatric Neurology
Board Certification
Royal College of Physicians & Surgeons Canada

Conditions

    • Neurogenetic diseases
    • Neurodegenerative diseases
    • Gene therapy

    • Research Interests

      • Gene therapy for childhood neurological diseases
      • Lafora Disease

    • Publications

      • 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.  Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.  Epilepsia.  2019;60(9): 1881-1894.  PMID 31468518
      • Orsini A, Valetto A, Bertini V, Esposito M, Carli N, Minassian BA, Bonuccelli A, Peroni D, Michelucci R, Striano P.  The best evidence for progressive myoclonic epilepsy: A pathway to precision therapy.  Seizure.  2019;71:247-257. PMID: 31476531
      • Mignot C, McMahon AC, Bar C, Campeau PM, Davidson C, Buratti J, Nava C, Jacquemont ML, Tallot M, Milh M, Edery P, Marzin P, Barcia G, Barnerias C, Besmond C, Bienvenu T, Bruel AL, Brunga L, Ceulemans B, Coubes C, Cristancho AG, Cunningham F, Dehouck MB, Donner EJ, Duban-Bedu B, Dubourg C, Gardella E, Gauthier J, Geneviève D, Gobin-Limballe S, Goldberg EM, Hagebeuk E, Hamdan FF, Hančárová M, Hubert L, Ioos C, Ichikawa S, Janssens S, Journel H, Kaminska A, Keren B, Koopmans M, Lacoste C, Laššuthová P, Lederer D, Lehalle D, Marjanovic D, Métreau J, Michaud JL, Miller K, Minassian BA, Morales J, Moutard ML, Munnich A, Ortiz-Gonzalez XR, Pinard JM, Prchalová D, Putoux A, Quelin C, Rosen AR, Roume J, Rossignol E, Simon MEH, Smol T, Shur N, Shelihan I, Štěrbová K, Vyhnálková E, Vilain C, Soblet J, Smits G, Yang SP, van der Smagt JJ, van Hasselt PM, van Kempen M, Weckhuysen S, Helbig I, Villard L, Héron D, Koeleman B, Møller RS, Lesca G, Helbig KL, Nabbout R, Verbeek NE, Depienne C. IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients. Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12. PubMed PMID: 30206421.
      • 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. Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases. Cell Rep. 2019 Apr 30;27(5):1334-1344.e6. doi: 10.1016/j.celrep.2019.04.017. PubMed PMID: 31042462.
      • Alkhater RA, Wang P, Ruggieri A, Israelian L, Walker S, Scherer SW, Smith ML, Minassian BA.  Dominant LMAN2L mutation causes intellectual disability with remitting epilepsy.  Ann Clin Transl Neurol.  2019 Mar 7;6(4):807-811.  Doi: 10.1002/acn3.727.
      • Tashkandi M, Baarma D, Tricco AC, Boelman C, Alkhater R, Minassian BA.  EEG of asymptomatic first-degree relatives of patients with juvenile myoclonic, childhood absence and rolandic epilepsy: a systematic review and meta-analysis.  Epileptic Disord. 2019 Feb 1;21(1):30-41. PMID: 30767897
      • Nicolescu RC, Al-Khawaga S, Minassian BA, Hussain K. Diabetes Mellitus in a Patient with Lafora Disease: Possible Links with Pancreatic β-Cell Dysfunction and Insulin Resistance. Front Pediatr. 2019 Jan 16;6:424. eCollection 2018. PMID: 30701169
      • Arkadir D, Lossos A, Rahat D, Abu Snineh M, Schueler-Furman O, Nitschke S, Minassian BA, Sadaka Y, Lerer I, Tabach Y, Meiner V. MYORG is associated with recessive primary familial brain calcification. Ann Clin Transl Neurol. 2018 Nov 15;6(1):106-113. PMID: 30656188
      • Goodspeed K, Harder L, Hughes S, Conger D, Taravella J, Gray SJ, Minassian B.  Optical coherence tomography features in brothers with aspartylglucosaminuria.  Ann Clin Transl Neurol. 2018 Oct 24;5(12):1622-1626. doi: 10.1002/acn3.672. eCollection 2018 Dec. PMID: 30564628
      • Alkhater RA, Scherer SW, Minassian BA, Walker S.  PI4K2A deficiency in an intellectual disability, epilepsy, myoclonus, akathisia syndrome.  Ann Clin Transl Neurol. 2018 Oct 24;5(12):1617-1621. doi: 10.1002/acn3.677. eCollection 2018 Dec.  PMID: 30564627
      • Verhalen B, Arnold S, Minassian BA.  Lafora Disease:  A Review of Molecular Mechanisms and Pathology.  Neuropediatrics.  2018 Dec;49(6):357-362.  PMID:  30336494
      • Nitschke F, Nitschke S, Mitra S, Minassian BA.  Lafora disease – from pathogenesis to treatment strategies.  Nat Rev Neurol.  2018 Oct;14(10):606-617. PubMed PMID: 30143794
      • Vincent A, Macri A, Tumber A, Koukas N, Ahonen S, Striano P, Minassian BA.  Ocular phenotype and electroretinogram abnormalities in Lafora disease:  A “window to the brain”.  Neurology.  2018 Jun 15.  pii:  10.1212/WNL.0000000000005821.  PubMed PMID:  29907606
      • Walker S, Dad R, Thiruvahindrapuram B, Ullah MI, Ahmad A, Hassan MJ, Scherer SW, Minassian BA.  Chorea-acanthocytosis:  Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.  Neurol Genet.  2018 May 18;4(3):e242.  doi: 10.1212/NXG.0000000000000242.  eCollection 2018 Jun.  PubMed PMID:  29845114;  PubMed Central PMCID:  PMC5691193
      • Goldsmith D, Minassian BA.  Extraneurological sparing in long-lived typical Lafora disease.  Epilepsia Open.  2018 May 17;3(2):295-298.  doi: 10.1002/epi4.12224. eCollection 2018 Jun.  PubMed PMID: 29881811; PubMed Central PMCID: PMC5983108
      • Gentry MS, Guinovart JJ, Minassian BA, Roach PJ, Serratosa JM. Lafora disease offers a unique window into neuronal glycogen metabolism. J Biol Chem. 2018 May 11;293(19):7117-7125. doi: 10.1074/jbc.R117.803064. Epub 2018 Feb 26. PubMed PMID: 29483193; PubMed Central PMCID: PMC5949988
      • Monlong J, Girard SL, Meloche C, Cadieux-Dion M, Andrade DM, Lafreniere RG, Gravel M, Spiegelman D, Dionne-Laporte A, Boelman C, Hamdan FF, Michaud JL, Rouleau G, Minassian BA, Bourque G, Cossette P.  Global characterization of copy number variants in epilepsy patients from whole genome sequencing.  PLoS Genet. 2018 Apr 12;14(4):e1007285. doi: 10.1371/journal.pgen.1007285.  PMID: 29649218
      • Uddin M, Woodbury-Smith M, Chan AJS, Albanna A. Minassian B, Boelman C, Scherer SW.  Genomic Context Analysis of de Novo STXBP1 / Mutations Identifies Evidence of Splice Site DNA-motif Associated Hotspots. G3 (Bethesda).  2018 Mar 28;8(4):1115-1118.  doi:10.1534/g3.118.200080.  PMID: 29438995
      • Ahonen S, Seath I, Rusbridge C, Holt S, Key G, Wang T, Minassian BA.  Nationwide genetic testing towards eliminating Lafora disease from Miniature Wirehaired Dachshunds in the United Kingdom.  Canine Genet Epidemiol.  2018 March;5:2.  Doi:10.1186/s40575-018-0058-8. eCollection 2018.  PMID: 29610669
      • Ferlazzo E, Trenite DK, Haan GJ, Nitschke F, Ahonen S, Gasparini S, Minassian BA.  Update on Pharmacological Treatment of Progressive Myoclonus Epilepsies.  Curr Pharm Des. 2017;23(37):5662-5666. doi: 10.2174/1381612823666170809114654.  PMID: 28799509
      • Uddin M, Woodbury-Smith M, Chan A, Brunga L, Lamoureux S, Pellecchia G, Yuen RKC, Faheem M, Stavropoulos DJ, Drake J, Hahn CD, Hawkins C, Shlien A, Marshall CR, Turner LA, Minassian BA, Scherer SW, Boelman C. Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes. Neurol Genet. 2017 Dec 18;3(6):e199. doi: 10.1212/NXG.0000000000000199. eCollection 2017 Dec.  PubMed PMID: 29264391; PubMed Central PMCID: PMC5735305.
      • Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study, FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrade DM, Rossignol E, Minassian BA, Michaud JL. High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.  Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008 PMID: 29100083
      • Dad R, Walker S, Scherer SW, Hassan MJ, Kang SY, Minassian BA.  Hyperventilation-athetosis in ASXL3 deficiency (Bainbridge-Ropers) syndrome.  Neurol Genet. 2017 Sep 22;3(5):e189. doi:10.1212/NXG.0000000000000189. eCollection 2017 Oct. PubMed PMID: 28955728; PubMed Central PMCID: PMC5610043.
      • Solmesky LJ, Khazanov N, Senderowitz H, Wang P, Minassian BA, Ferreira IM, Yue WW, Lossos A, Weil M, Kakhlon O. A novel image-based high-throughput screening assay discovers therapeutic candidates for adult polyglucosan body disease. Biochem J. 2017 Sep 28;474(20):3403-3420. doi: 10.1042/BCJ20170469. PubMed PMID: 28827282.
      • Minassian BA.  Understanding the brain one amino acid at a time - The case of the FHF1 R52H encephalopathy.  Eur J Paediatric Neurol. 2017 Sep;21(5):699-700. doi: 10.1016/j.ejpn.2017.07.013. PMID: 28784232
      • Andrade DM, Bassett AS, Bercovici E, Borlot F, Bui E, Camfield P, Clozza GQ, Cohen E, Gofine T, Graves L, Greenaway J, Guttman B, Guttman-Slater M, Hassan A, Henze M, Kaufman M, Lawless B, Lee H, Lindzon L, Lomax LB, McAndrews MP, Menna-Dack D, Minassian BA, Mulligan J, Nabbout R, Nejm T, Secco M, Sellers L, Shapiro M, Slegr M, Smith R, Szatmari P, Tao L, Vogt A, Whiting S, Carter Snead O 3rd.  Epilepsy: Transition from pediatric to adult care. Recommendations of the Ontario epilepsy implementation task force.  Epilepsia. 2017 Sep;58(9):1502-1517. doi: 10.1111/epi.13832 PMID: 28681381
      • Dad R, Malik U, Javed A, Minassian BA, Hassan MJ. Structural annotation of Beta-1,4-N-acetyl galactosaminyltransferase 1 (B4GALNT1) causing Hereditary Spastic Paraplegia 26.  Gene. 2017 Aug 30;626:258-263. doi: 10.1016/j.gene.2017.05.041 PMID: 28536081
      • Sullivan MA, Nitschke S, Steup M, Minassian BA, Nitschke F.  Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan.  Int J Mol Sci. 2017 Aug 11;18(8). pii: E1743. doi: 10.3390/ijms18081743 PMID: 28800070 
      • Swain L, Key G, Tauro A, Ahonen S, Wang P, Ackerley C, Minassian BA, Rusbridge C. Lafora disease in miniature Wirehaired Dachshunds. PLoS One. 2017 Aug 2;12(8):e0182024. doi: 10.1371/journal.pone.0182024. eCollection 2017. PubMed PMID: 28767715; PubMed Central PMCID: PMC5540395
      • Nitschke F, Sullivan M, Wang P, Zhao X, Chown EE, Perri AM, Steup M, Minassian BA.  Abnormal glycogen chain length pattern, not hyperphosphorylation is critical in Lafora Disease.  EMBO Mol Med 2017 July: 9(7)906-917.  PMID:  28536304 PMCID: PMC5494504  DOI: 10.15252/emmm.201707608
      • Alber M, Kalscheuer VM, Marco E, Sherr E, Lesca G, Till M, Gradek G, Wiesener  A, Korenke C, Mercier S, Becker F, Yamamoto T, Scherer SW, Marshall CR, Walker S, Dutta UR, Dalal AB, Suckow V, Jamali P, Kahrizi K, Najmabadi H, Minassian BA. ARHGEF9 disease: Phenotype clarification and genotype phenotype correlation. Neurol Genet. 2017 May 26;3(3):e148. doi: 10.1212/NXG.0000000000000148. PubMed PMID: 28589176; PubMed Central PMCID: PMC5446782
      • Steward CA, Parker APJ, Minassian BA, Sisodiya SM, Frankish A, Harrow J.  Genome annotation for clinical genomic diagnostics: strengths and weaknesses.   Genome Medicine 2017 May 30:9(1):49.
      • Dad R, Walker S, Scherer SW, Hassan MJ, Alghamdi MD, Minassian BA, Alkhater R.  Febrile ataxia and myokymia broaden the SPG26 hereditary spastic paraplegia phenotype.  Neurology Genetics 2017 May 23; 3(3):e156.
      • Mishra N, Kouzmitcheva E, Orsino A, Minassian BA.  Chromosome 12p deletion spanning the GRIN2B gene presenting with a neurodevelopmental phenotype: A case report and review of literature.  Child Neurology Open 2016 April 4; Vol 3 2329048X16629980.
      • Munteanu I, Kalimo H, Saraste A, Nishino I, Minassian BA. Cardiac autophagic vacuolation in severe X-linked myopathy with excessive autophagy. Neuromuscul Disord. 2017 Feb;27(2):185-187.
      • Mishra N, Wang P, Goldsmith D, Zhao X, Xue Y, Christians U, Minassian BA. Everolimus does not prevent Lafora body formation in murine Lafora disease. Neurol Genet. 2017 Jan 9;3(1):e127.

    • Professional Activities

      • 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

    • Awards and Honors

      • D Magazine Best Pediatric Specialists (2018)
      • The Norman Saunders “Jacob's Ladder International Research Prize” for Outstanding Scientist (2014)
      • Leadership Award in E-Infrastructure in recognition of outstanding leadership in research and innovation in Ontario, The Ontario Research and Innovation Optical Network (ORION). (2013)
      • Keynote Speaker, Benjamin Boshes Memorial Lectureship, Israeli Neurological Association Annual Meeting (2011)
      • Sanofi Pasteur Research Award, for excellence in Canadian child health research, Canadian Paediatric Society (2008)
      • Dreifuss-Penry Epilepsy Award for Independent contribution to epilepsy research, American Academy of Neurology (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)

    Where I Provide Care: