• Demos, Michelle


    Investigator, BC Children's Hospital
    Clinician, Pediatric Neurology and Neurogenetics, BC Children’s Hospital
    Clinical Assistant Professor, Division of Neurology, Department of Paediatrics, University of British Columbia

    Degrees / Designations
    Primary Area of Research
    Brain, Behaviour & Development
    Secondary Area(s) of Research
    604-875-2345 ext. 7028
    Lab Phone
    Mailing Address

    BC Children's Hospital
    Room K3-176
    4880 Oak St.
    Vancouver, BC V6H 3V4

    Affiliate Websites
    Research Areas
    • Genetics of Pediatric Epilepsy
    • Pediatric Neurogenetics

    Epilepsy is one of the most common serious neurological disorders occurring in childhood. Genetic factors have been shown to play an important role in many epilepsy disorders. My research involves the collaboration of other clinicians and researchers from Neurology and Medical Genetics at BC Children's Hospital. The main focus involves studying the different genetic causes of pediatric epilepsy including familial forms of epilepsy and genomic imbalances associated with epilepsy. This research aims to improve diagnosis and treatment of children with genetic forms of epilepsy. Another focus includes identifying clinical features and genetic causes of rare pediatric neurogenetic disorders.

    Current Projects

    Genomic Imbalances in Children with Intractable Cryptogenic Epilepsy
    Tucker T., Adam S., MacGillivray B, Separovic, Eydoux P., Connolly M, Farrell K, Friedman J.
    Supported by BC Clinical Genomics Network.
    The cause of epilepsy cannot be identified in more than half of children with seizures. Thirty to 40 per cent of those affected will also have seizures which are intractable to medication. Array Comparative Genomic Hybridization is a relatively new technology being used to identify submicroscopic chromosomal imbalances in patients with mental retardation. It detects imbalances at least twice as frequently as conventional cytogenetic analysis. For this study, we are using array technology to estimate the frequency of genomic imbalances or pathogenic Copy Number Variants in children with intractable unexplained epilepsy and describe their clinical and EEG features. The chromosomal region containing the imbalance will also be examined for candidate epilepsy genes.

    The Study of Familial Infantile Seizures in First Nations Children of British Columbia
    Swiergala E., Eydoux, P., Connolly M., Farrell K., Field L., Arbour L.
    Funding by Sick Kids Foundation/CIHR June 2009 – May 2011 $169,995 + $40,000 salary support and Epilepsy Canada Salary Award (2005-2007) $38,000
    A form of familial infantile seizures appears to be affecting First Nations families disproportionately in British Columbia. The seizures affecting the infants of these First Nation families appears to represent a specific form of familial infantile seizures which is likely affecting other First Nations families in B.C. and is due to common genetic factor. This project aims to determine the clinical features of this epilepsy disorder, and identify the genetic cause(s) to provide recommendations for diagnosis and management and improve our understanding of how epilepsy develops.

    Selected Publications

    du Souich C, Chou A, Yin J, Oh T, Nelson T, Hurlburt J, Friedlander R, McGillivray B, Tyshchenko N, Rump A, Poskitt KJ, Demos MK, Van Allen MI, Boerkoel CF. Characterisation of a New X-Linked Mental Retardation Syndrome with Microcephaly, Cortical malformation, and thin habitus. Am J Med Genet (A) MS 09-0135 Accepted Jul 2009.

    Demos MK, Macri V, Farrell K, Nelson TN, Chapman K, Accili E, Armstrong L. A Novel KCNA1 mutation associated with global delay and cerebellar dysfunction. Mov Disord. 2009 Apr 15;24(5):778-8

    Demos M, Fullston T, Gecz J, Gibson W. Clinical Study of Two Brothers with a Novel 33 bp Duplication of the ARX Gene. Am J Med Genet A. 2009 Jul; 149A(7):1482-6.

    Waters P.J., Khashu M., Lillquist Y., Senger C., Mattman A., Demos M., Setchell K., Rupar A., Scott P., Blau N., and H.D. Vallance.  Neonatal hyperphenylalaninemia, Perinatal hemochromatosis and renal tubulopathy: a unique patient or a novel metabolic disorder?   Mol. Genet. Metab.  2005.  86:148-152.

    Demos M.K., Waters P.J., Vallance H.D., Lillquist Y., Makhseed N., Hyland K., Blau N., and M. Connolly.  6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia.  Ann. Neurol.  2005.  58:164-167.

    Honours & Awards
    Research Group Members
    • Dr. Vesna Popovska – Research Manager
    • Andrew Battison – Research Assistant