Who we are
We are a network of patient advocacy groups representing rare and complex epilepsies with the support of umbrella epilepsy advocacy groups. As a collective we can advocate on behalf of all rare epilepsies to garner interest or drive change with researchers or stakeholders.
We want more patient advocacy groups to join us to bring us all together for collective change.
Background:
Disorder specific rare epilepsy advocacy groups are experts on their disorder and can offer great support and connection to their affected families. However, they are too small to drive change or garner the interest of researchers or stakeholders.
Many rare and complex epilepsies are refractory to medication and associated with many co-morbidities. Although there are differing aetiologies and day to day needs there is a common set of unmet needs. Together we are one bigger, louder voice to affect change.
Find a disease specific rare epilepsy patient group in the table below:
List of rare epilepsies represented: SCLC6a1
List of rare epilepsies represented: Batten Disease
List of rare epilepsies represented: Seizure of various types
List of rare epilepsies represented: Infantile Spasms, Epileptic spasms
Instagram: Caskresearch
List of rare epilepsies represented: CDKL5 deficiency disorder, infantile spasms and Lennox-Gastaut Syndrome.
List of rare epilepsies represented: Epilepsies caused by a pathological variant in the gene encoding CHD2.
List of rare epilepsies represented: CRELD1
List of rare epilepsies represented: GRIN1, GRIN2A, GRIN2B, GRIN2C, and GRIN2D genes
List of rare epilepsies represented: Dravet Syndrome
Instagram: @dravetsyndromeuk
Twitter: @dravetuk
List of rare epilepsies represented: DHDDS
Instagram:
Twitter:
List of rare epilepsies represented: Glut1 Deficiency Syndrome
Instagram: Glut1DeficiencyUK
Twitter: @Glut1UK
YouTube : Glut1DeficiencyUK
List of rare epilepsies represented : Rett Syndrome
Instagram: https://www.instagram.com/rettuk
Twitter: https://twitter.com/RettUK
Promoting research, education and continuous support to end undiagnosed and misdiagnosed Ring20 epilepsy. Our mission is to provide support for individuals, families and healthcare professionals who are affected by, or who come into contact with Ring Chromosome 20 Syndrome or r(20) – a rare epilepsy syndrome.
List of rare epilepsies represented: Ring Chromosome 20 Syndrome
Instagram: ring20epilepsy
For patients and families diagnosed with NARS1 disease.
List of rare epilepsies represented: NARS1
Instagram:
List of rare epilepsies represented: SCN8A
Instagram: scn8a_uk
Instagram: https://www.instagram.com/sturge_weber_uk/
Twitter: https://twitter.com/SturgeWeberUK
YouTube :
List of rare epilepsies represented: All epilepsies are on account of having a rare genetic disorder
List of rare epilepsies represented: Rare epilepsy caused by SETBP1 gene gain of function variants (causing Schinzel-Giedion Syndrome)
Instagram: schinzel_giedion_syndrome
Twitter: @foundation_sgs
List of rare epilepsies represented: Spectrum of epilepsies
Instagram: timothysyndromealliance
Twitter: @tsa_charity
List of rare epilepsies represented: TSC-related epilepsy
Twitter: @UKTSA
List of rare epilepsies represented: Infantile spasms
Instagram: ukinfantilespasmstrust
Twitter: @UK_IS_T
Find an umbrella association in the table below:
List of rare epilepsies represented: ALL
List of rare epilepsies represented: None
Instagram: epilepsyscotland
Twitter: @epilepsy_scot
List of rare epilepsies represented: ALL
Instagram: https://www.instagram.com/epilepsysociety/
Twitter: https://twitter.com/epilepsysociety
List of rare epilepsies represented: ALL.
List of rare epilepsies represented: ALL
Instagram: matthewsfriendsketogenic
Twitter: @matthewsfriends
List of rare epilepsies represented: Infantile spasms, Dravet, LGS, SCN8A, PCDH19, TSC among many others
LinkedIn : @medcanfoundation
List of rare epilepsies represented: Childhood onset epilepsies (as seen in Alpers-Huttenlocher syrdrome, Pearson syndrome, pyruvate dehydrogenase complex deficiencies and Leigh syndrome, etc). MELAS, MERFF or POLG-related disorders can present with focal and generalised seizures.
List of rare epilepsies represented: All
Instagram: unique_charity
Twitter: @Unique_charity
List of rare epilepsies represented: ALL
Email : rpardington@youngepilepsy.org.uk
Other epilepsy associations we work with:
List of rare epilepsies represented: ALL
Twitter: @EpilepsySparks