Links | Resources

This page contains some useful links and resources for families/individuals with genetic epilepsies. The information and links will continue to be updated as new information and resources become available.

General Information on genetics

• Centre for Genetics Education website (alphabetical listing of the most common genetic causes of childhood syndromes and/or intellectual disability, including many genetic epilepsies here)​​​​​​
• Genetics Home Reference website
• Genomics Information for you and your family website 
• Genomics England information and infographics website

 

Epilepsy genetic information

• Beyond the Ion Channel website 

 

Support Groups and information

Genetic Epilepsy Team Australia (GETA)

• GETA is a group of parents whose children have rare genetic epilepsy. Their mission is to help researchers cure genetic epilepsy. They convene an annual conference on genetic epilepsy for families, researchers and clinicians bringing together the latest research in genetic epilepsy and developmental and epileptic encephalopathies (DEEs).  
• To be notified about the next conference, you can follow GETA on Facebook, Twitter, 
• or email them at hello@geneticepilepsyteam.com.au.

 

Epilepsy Foundation 

The Epilepsy Foundation is an Australian non-profit organisation committed to supporting people who live with epilepsy and individuals who support and care for people who live with epilepsy.  

• Epilepsy Foundation Facebook page: The Epilepsy Foundation run several peer-support groups throughout the year for families. These events provide parents/carers/families with opportunities to connect with others, as well as have access to free or low-cost events and activities. Events/support groups will be advertised via their Facebook page.   
• Epilepsy Smart Australia is a new national program run by the Epilepsy Foundation. In 2021, they launched their National Epilepsy Support Service (NESS).  NESS is a free, Australia-wide resource that provides support and information for people living with epilepsy and those who assist them. This service can help with information and resources to support the health and wellbeing of people living with epilepsy. However, it is not a support group. NESS is available Monday to Saturday from 9.00 am to 7.00 pm (AEST). Phone: 1300 761 487. 

 

Epilepsy Action Australia 

Epilepsy Action Australia is a National NDIS Service Provider of professional education and services for people with epilepsy. They have several relevant online forums. While these may be useful, none are specifically just for carers of a child with intractable epilepsy.  

• MyEpilepsyTeam: Epilepsy Action has partnered with MyEpilepsyTeam, a social network and online support group for people living with epilepsy (including family members and carers).  
• Epilepsy Action Facebook page: This Facebook page gives regular updates about upcoming events, programs, surveys and studies. It offers snippets of information and alerts you to the latest epilepsy news and happening. However, it does not provide opportunities for interactive peer support (other than via comments). 
• Epilepsy Action & Friends Online Support group: This Facebook group is designed to bring together an Australian community of people aged 21 and over who have/had epilepsy or know someone with epilepsy. This is a place for you to share your experiences, meet others with epilepsy and gain practical advice so you feel better supported. There are currently 84 members, with about 3 posts a month.  

 

Gene Specific Information and Support groups (not a complete list)

• CDKL5
  • https://rett.telethonkids.org.au/about/cdkl5-disorder/
  • https://ghr.nlm.nih.gov/condition/cdkl5-deficiency-disorder
  • https://www.cdkl5.com/support-groups/
  • http://www.curecdkl5.org/
• KCNQ2
  • https://ghr.nlm.nih.gov/gene/KCNQ2
  • https://www.kcnq2cure.org/family-support/the-cure-card/
  • http://kcnq2.org/stories/  
• SCN1A
  • https://ghr.nlm.nih.gov/gene/SCN1A
  • http://www.dravetfoundation.org/
• SCN2A
  • https://www.rarechromo.org/media/information/Chromosome%20%202/SCN2A%20related%20conditions%20FTNW.pdf
  • https://humandiseasegenes.nl/scn2a/management/
  • https://ghr.nlm.nih.gov/gene/SCN2A#conditions
  • http://supportepilepsy.com.au/event/SCN2a
  • www.scn2aaustralia.org
• STXBP1
  • https://www.rarechromo.org/media/singlegeneinfo/Single%20Gene%20Disorder%20Guides/STXBP1%20Disorders%20QFN.pdf
  • http://humandiseasegenes.nl/stxbp1
  • https://ghr.nlm.nih.gov/condition/stxbp1-encephalopathy-with-epilepsy
  • http://stxdisorders.org/

 

Other Support groups and organisations

Kindred: https://kindred.org.au/ 

Kindred (previously known as Reframing Disability) provide a number of services to support parents and caregivers of children with disability, developmental delays or medical needs, including children with a rare disease or no diagnosis.  

• Peer Connect program: connects parents and caregivers just starting out on their journey with those further along the way. It’s an entirely free service delivered by their team of knowledgeable Peer Support Specialists, who are also caregivers of children with disability, delay, or medical need. This program runs virtually or via phone.  
• My Time program: involves informal peer groups that are run online on Monday nights.  Parents and caregivers come together to share, laugh and learn from each other. It is a drop-in group. 
• For further information, you can contact Kindred by emailing info@kindred.org.au.

 

National Disability Insurance Scheme:  https://www.ndis.gov.au/

Cerebral Palsy Alliance: https://cerebralpalsy.org.au/

Royal Institute of Deaf and Blind Children: https://ridbc.org.au/

Glossary of genetic terms: https://www.australiangenomics.org.au/resources/for-patients/genomics-glossary/#1543205241515-20146561-d080

 

If you have additional links you would like us to include, please contact the team and we would be happy to discuss this.

------------

Content on this page was generated via the GenE Compass project. The following article provides more information about the project: 

• Robertson EG, Kelada L, Best S, Goranitis, I, Grainger N, Le Marne F, Pierce K, Nevin, SM, Macintosh R, Beavis E, Sachdev R, Bye A, Palmer EE. (2022). Acceptability and feasibility of an online information linker service for caregivers who have a child with genetic epilepsy: a mixed-method pilot study protocol. BMJ Open, 12:e063249. https://doi.org/10.1136/bmjopen-2022-063249 

 

Information last reviewed: 18/11/2022.