Genetic Epilepsy Collaboration

image - Genetic Epilepsy Collaboration

Centre for Clinical Genetics

Clinical Geneticists: Professor Edwin Kirk (Co-Head Department), Dr Rani Sachdev, Dr Elizabeth Emma Palmer

Genetic Counsellors: Rebecca Macintosh, Samantha Mason

Department of Neurology

Neurologists: A/Professor Annie Bye (Head of Department), Dr Tejaswi Kandula

Epilepsy Intervention & Evaluation Coordinator: Fleur Le Marne

School of Women’s and Children’s Health, Faculty of Medicine, University of New South Wales


Clinical Services

Over 170 patients with a likely genetic epilepsy are currently seen by the Departments of Neurology and Clinical Genetics.  This patient cohort presents with diverse epilepsy presentations from severe epileptic encephalopathy, to suspected autosomal dominant genetic generalised epilepsy. Over 120 patients have undergone extended genetic testing: typically including chromosomal microarray, metabolic screening and next generation sequencing epilepsy panel/exome or genome. Over 50 children have an established genetic diagnosis: with the diagnostic yield varying significantly between patient groups the highest diagnostic yield being in neonatal and early infantile epileptic encephalopathy.  Identified genetic causes include variants in: -

  • ion channel genes (SCN1A, SCN2A, SCN8A, KCNQ2, KCNT2)

  • transporter/synaptic genes (GLUT1, DNM1, SZT2, CNTNAP2, DYNC1H1, WWOX, STXBP1, KIAA2022, UBA5, DEAF1, SLC9A6, SLC6A1, ATP1A3, CDKL5, ARX, PRRT2, WDR73)

  • metabolic genes (ARV1, ASNS, ADSL, ALG13, POLG)

Genetic diagnoses are being used by families to guide reproductive decision making and have clinical utility with respect to anti-epileptic medication choice, prognostication, surveillance and management.  A team of Clinical Geneticists and Genetic Counsellors navigate families through the testing process and information on diagnoses. Regular clinical/research multidisciplinary meetings are held to guide best clinical practice, and foster ongoing collaborative research.

Our Team Epilepsy

Staff/Team members 
image - Anniebye
Conjoint Associate Professor
Ph (02) 9382 1549
Conjoint Professor
Ph (02) 9382 1704
Conjoint Lecturer
Clinical Geneticist and Lecturer
Ph +61 2 9382 5583
Conjoint Associate Lecturer
Conjoint Lecturer
Other team members 

Genetic Counsellors:

  • Rebecca Macintosh

  • Samantha Mason

Our Research Epilepsy

Current Research

  • Integrating Exome Sequencing into a Diagnostic Pathway for Epileptic Encephalopathy: Evidence of Clinical Utility and Cost Effectiveness:
    Collaborators: Professor Deborah Schofield, University of Sydney, SEALS Pathology and The Garvan Institute.
    This study supports the integration of exome sequencing and gene panel testing into the diagnostic pathway for epileptic encephalopathy, both in terms of cost-effectiveness and clinical utility. Trio exome sequencing resulted in a diagnostic yield of 50% with a cost saving of AU$5,236 per additional diagnosis compared to standard testing. (Palmer, Schofield et al., under review)

  • The information needs of parents of children with a genetic, or suspected genetic, form of epilepsy:
    Collaborators: Professor Claire Wakefield, UNSW and Professor Kristine Barlow-Stewart, University of Sydney.
    This qualitative study will inform the provision of information for families and doctors of children with a genetic epilepsy, through the established Epilepsy Resource for families.

  • Identification and characterisation of novel genetic causes of epileptic encephalopathy (EE) by Whole Genome Sequencing (WGS):
    30 families are currently being investigated by whole genome sequencing in collaboration with the Translational Genomics Group at the Garvan Institute. Mechanisms including somatic mosaicism, mitochondrial and complex structural rearrangements are being evaluated. This research is leading to the identification of novel genetic causes of EE.

Selected recent publications

  • A de novo mutation in the sodium activated potassium channel KCNT2 alters ion selectivity and causes epileptic encephalopathy Gururaj*, Palmer* et al., Cell Reports, 2017
  • Neuronal deficiency of ARV1 causes an autosomal recessive epileptic encephalopathy Palmer*, Jarrett* et al., HMG, 2016
  • Asparagine Synthetase deficiency causes reduced proliferation of cells under conditions of limited asparagine. Palmer*, Hayner* et al., Mol Genet Metab 2015
  • A genetic diagnostic approach to infantile epileptic encephalopathies. Kamien et al., J Clin Neurosci, 2012
  • Genetics of epileptic encephalopathy. Palmer et al., 2017. eLS.   

Patient Database and Biobank

In collaboration with the Sydney Partnership for Health, Education, Research & Enterprise(SPHERE) we have recently secured funding for a dedicated Project Officer to maintain our patient and family database, including biobanking of patient derived samples to facilitate collaborative research, in particular with aims to evaluate underlying pathophysiology of genetic epilepsy conditions and explore avenues for personalised management to maximise clinical outcomes for our patients. 


NHMRC, SPHERE: Sydney Partnership for Health, Education, Research & Enterprise, NSW Health including the NSW Genomics Collaborative Grants Program

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