About Us (Epilepsy)

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.

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