About Us (Epilepsy)

Ensuring children born with brain disorders get the best treatments and supports
to enable them and their families to live happy and fulfilled lives. 

 

Centre for Clinical Genetics

  • Clinical Geneticists: Dr Elizabeth Emma Palmer, Dr Rani Sachdev. 
  • Genetic Counsellors: Rebecca Macintosh. 

Department of Neurology

  • Neurologists: A/Professor Annie Bye (Head of Department).
  • Epilepsy Intervention & Evaluation Coordinator: Fleur Le Marne.
  • Epilepsy Clinical Nurse Consultant: Erin Beavis 

School of Women’s and Children’s Health, UNSW Medicine, UNSW Sydney

  • Lecturer: Dr Elizabeth Emma Palmer 
  • Project Officer / PhD Student: Suzanne Nevin

 

Clinical Services

Over 250 children with a likely genetic epilepsy are currently seen by the Departments of Neurology and Clinical Genetics at Sydney Children’s Hospital Randwick.  Children present with diverse epilepsy presentations from severe epileptic encephalopathy, to suspected autosomal dominant genetic generalised epilepsy.

Over 200 families have opted to have diagnostic clinical and/ or  research testing to try and understand the cause of their child’s epilepsy, typically including chromosomal microarray, neurometabolic screening and massively parallel sequencing via panel, exome or genome sequencing.

Over 100 children have an established genetic diagnosis: with the diagnostic yield varying significantly between patient groups.  The highest diagnostic yield has been for children with neonatal and early infantile epileptic encephalopathy.  

Identified genetic causes include variants in:

  • ion channel genes (SCN1A, SCN2A, SCN8A, KCNQ2, KCNT2, KCNT1, HCN1)

  • transporter/synaptic genes (GLUT1, DNM1, SZT2, CNTNAP2, DYNC1H1, WWOX, STXBP1, KIAA2022, UBA5, DEAF1, SLC9A6, SLC6A1, ATP1A3, ATP6V0C, CDKL5, ARX, PRRT2, WDR73, SYNGAP1, ST3GAL5, PRRT2, GABRB2)

  • metabolic genes / basic cellular function genes (ARV1, ACAD9, ALG1, AP4S1, ARV1,ASNS, ADSL, ALG13, POLG, NARS2,PARS2,CARS2, ATN1, CLCN4, FGF12, DEPDC5, SETBP1, UBA5)

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.

 

Education Resources

Members of the COGENES group in consultation with families of patients, external geneticists and paediatricians, have created online genetic resources for families and for clinicians who treat patients with genetic epilepsies.  These resources are available on the Paediatric Epilepsy Network NSW (PENNSW).

The genetic resources for families cover:

  • Genetic Epilepsy
  • Genetic Inheritance
  • Genetic testing 
  • What to expect at a genetic appointment? 
  • Other links and resources

The genetic resources for clinicians cover:

  • Genetic testing
  • Diagnostic Yield
  • Chromosomal Microarray
  • Fragile X PCR
  • First-line metabolic testing
  • Exome Panel
  • When to refer to Genetics? 

 

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