Genetic Epilepsy Team Australia’s mission is to help world-leading Australian researchers cure the genetic epilepsies. As part of this mission GETA aims to:

• Raise awareness of the many forms of genetic epilepsy

• Promote Australia’s world-leading research position in the discovery and treatment of the genetic epilepsies

• Raise funds for research into cures and therapies for the genetic epilepsies

Genetic Epilepsy Team Australia works alongside leading health researchers and with families and children with genetic epilepsy towards their mission: GETA:  GET A Team, GET A Target, GET A Cure

Website: geneticepilepsyteam.com.au
Twitter:  geneticepilepsy

Rare Epilepsy Network (REN) was born in 2013 with ten rare epilepsy organisations fueled by a Patient-Centered Outcomes Research Institute (PCORI) grant, managed by the Epilepsy Foundation (EF), and singularly focused on a project to build a patient-centered registry.

By 2019, REN had grown to 32 organisations, launched a first-of-its-kind rare epilepsy registry, including 41 diseases, and onboarded 1,500 patients. When the PCORI grant came to a close in Spring 2019, REN members determined there was value in continuing the network, expanding from a single focused project to multiple projects, and improving transparency about REN’s mission, composition, and terms of engagement. As a result, a small transition workgroup convened to envision the future of REN.

 In early 2020, REN began anew and is growing with speed. REN is a volunteer network that welcomes all rare epilepsy organisations to come together around research efforts where our collective efforts will improve the lives lived of our individual constituents. REN includes rare epilepsy organisations and broad epilepsy stakeholders committed to this common mission. Meet our Members and Partners here.

Website: rareepilepsynetwork.org
Twitter:  RareEpilepsy

Alternating Hemiplegia of Childhood (AHC)

AESHA is the Spanish Association of Alternating Hemiplegia of Childhood (AHC), a non-profit organisation currently formed of 21 Spanish families and 1 Portuguese family with a relative diagnosed with AHC. AESHA’s main objectives are to support AHC families and encourage the exchange of experiences, raise awareness of AHC, organise fundraising activities to support international research projects, and promote the exchange of information and collaboration between doctors and researchers.

Please reach out to them if you are the parent, relative, or friend of someone diagnosed with AHC. They will be happy to help you understand the disease a little better, provide information about our experience, explain the possibilities of treatments that currently exist, and show you the different research projects that are currently underway.

Website: aesha.org
Twitter:  aesha_ahcspain

Alternating Hemiplegia of Childhood UK supports families who have a child or loved one that have been diagnosed with AHC. For those who feel alone or/and are not sure what to do or where to go, they are here to help and support them.

AHC UK plays a key role in the creation of clinical reference centres, the development of Clinical Registries and Biobanks, working with the IAHCRC (International AHC Research Consortium - see below) to have scientists, clinicians, and families learn together.

Website: ahcuk.org
Twitter:  SupportAHCUK

The IAHCRC Consortium is a network of Clinical Centers, Research Laboratories and Scientific Organisations in Europe, North America, Asia and Australia, with active involvement in the research and in the care for the ATP1A3 rare diseases. They also work in close collaboration with the patient associations and with external scientific and mixed organisations. The IAHCRC Consortium aims to accelerate clinical and basic science research in the field of AHC and of all the ATP1A3 related diseases and to improve the quality of life of the affected patients and of their families.

Website:  iahcrc.net
Facebook:  iahcrc

Angelman Syndrome

AngelmanUK is a volunteer-led registered charity based in the UK. We help support people with AS and their families as well as carers of people with Angelman Syndrome. We also provide support to professionals working with the person with AS, who may have met very few or no other individuals with Angelman Syndrome in their professional career. We aim to educate and raise awareness of this rare neurological condition and the issues that surround it and also assist many organisations and individuals in carrying out research into Angelman Syndrome and its many related areas.

Website: angelmanuk.org
Twitter:  angelmanuk

CHAMP1

The CHAMP1 Research Foundation is an organisation created for parents of children with developmental delay, hypotonia, cerebral palsy, autism, and epilepsy among many other diagnoses a result of a change in the CHAMP1 gene. Their mission is to improve the lives of those affected by CHAMP1 through clinical research, effective treatments, public awareness, early detection, family support, and patient advocacy.

Website: champ1foundation.org
Twitter:  champ1research

CHD2

Coalition to Cure CHD2 is a 100% volunteer-run organisation fueled by our desire to help our children & others with CHD2-related disorders. CHD2-related neurodevelopmental disorders are a group of seizure disorders that typically present in the first five years of life and may be characterised by refractory or drug-resistant epilepsy, developmental delays, and photosensitivity epilepsy caused by flashing lights. Other symptoms may include intellectual disability, autism spectrum disorders, neuropsychiatric conditions, low muscle tone, and challenging behaviours.

Website: curechd2.org
Twitter:  curechd2

CRELD1

The CRELD1 Warriors organisation is a community of families affected by the rare epilepsy CRELD1 (Cysteine Rich With EGF Like Domains 1). CRELD1 is a Protein Coding gene. Sequence changes in the CRELD1 gene are typically associated with the cause of atrioventricular septal defect (AVSD). Diseases associated with CRELD1 include Atrioventricular Septal Defect 2 and Partial Atrioventricular Septal Defect Without Ventricular Hypoplasia. 

New types of sequence changes in different parts of the CRELD1 gene can cause an extremely rare genetic disorder, when both copies of the gene don’t function properly (autosomal recessive inheritance). This manifests as a wide range of neurodevelopmental disorders, ranging from mild movement disorders to severe developmental and cognitive delays. This newly identified CRELD1-related disorder is also characterised by multiple, frequent, treatment resistant epileptic seizures, adrenal insufficiency, severe bilateral neural hearing loss, immature eye development, acute respiratory distress and submucosal cleft palate to name a few. 

Website: creld1.com
Facebook:  groups/2368320773203235

DHDDS

Cure DHDDS is a charity set up to raise awareness, support families and help drive research into the ultra-rare DHDDS gene mutations. An ultra-rare genetic disease, DHDDS (Dehydrodolichyl Diphosphate Synthase) is a protein coding gene. Most patients (over 85%) experience the following to varying degrees: Intellectual disability (from mild to severe), tremors/myoclonus, epilepsy (seizures varying from focal to generalised, including absence, myoclonic, atonic, tonic, and tonic-clonic ) and ataxia. Other, less common symptoms reported (less than 30%) include: movement disorders such as chorea, parkinsonism, pyramidal signs, dystonia, and dysarthria; autistic traits such as stereotypie; behavioral disorders inc. hyperactivity/ADHD, and psychiatric conditions including anxiety, OCD, and psychosis.

Website: curedhdds.org
Facebook:  groups/5098109866933988

Fundación Síndrome de Dravet’s objective is to promote, encourage and connect the main world research centres on Dravet Syndrome and other related diseases. Is it based on the principle of a collaborative model uniting professionals, patients, researchers, doctors, volunteers and sponsors in the search for an effective therapy. The main objective is to eliminate the barriers that prevent research on Dravet Syndrome from progressing, as well as finding effective drugs and treatments that allow people to eliminate, mitigate and even cure the disease.

Website: dravetfoundation.eu
Twitter:  FundacionDravet

GABA-A

The GABA-A Alliance both forms a group of families affected by the rare epilepsy and works with researchers to find some answers and improved care! GABA-A receptor disorders are caused by variants in one or more of the GABA-A genes.  There are various symptoms of a GABA-A disorder. These symptoms are not experienced by all individuals. These include Developmental delay, Epilepsy (including Dravet Syndrome, Lennox-Gastaut Syndrome, and Treatment Resistant Epilepsy, I Intellectual disability (mild to severe), Hypotonia, Dyspraxia, Movement disorders (including dystonia, apraxia, choreoathetosis), and Cortical-Visual Impairment.

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Website: gabaa.org
Twitter:  gaba_alliance

The Cure GABA A Variants organisation has been focusing on groundbreaking research and the organization of a digital Natural History Study for the various GABA A Variants.

Founded in 2023, their mission is to address the urgent need for effective treatments for individuals affected by GABA A Variants, a group of genetic disorders that cause debilitating neurological symptoms. The organisation has the sole focus of understanding the most efficient and effective way to develop potential therapies for GABA A Variants. They have collaborated with renowned academic institutions to conduct extensive research projects in collaboration with leading experts in the field. Our dedicated team of scientists and clinicians have made remarkable discoveries, identifying key elements of the understanding of GABA A Variants. Furthermore, our organisation’s goal is to secure grants and funding from prestigious sources, enabling us to accelerate our research efforts. 

Website: curegabaa.org
Facebook:  Cure Gaba A Variants

Lennox-Gastaut Syndrome

The LGS Foundation's mission is to improve the lives of individuals affected by Lennox-Gastaut Syndrome (LGS) through research, family support programs, and education. 

Website: lgsfoundation.org
Twitter:  LGS_Foundation

Ketogenic Diet

Matthew’s Friends is a registered charity specialising in medical Ketogenic Therapies for epilepsy, Glut1DS & other neurological disorders.  They provide support for patients and families in the form of tried and tested #ketokitchen recipes, video tutorials, free starter packs, events and mentoring.  They also support health professionals in the field, providing eLearning, webinars, events & conferences.

Website: matthewsfriends.org
Twitter:  matthewsfriends

Schinzel-Giedion

The Schinzel-Giedion Syndrome Foundation’s mission is to provide support to families caring for a child with Schinzel-Giedion Syndrome, to raise awareness of SGS, and to facilitate and support medical research that will help them find better treatments to improve the quality and length of life of children living with SGS. Their vision is for a future when all children with SGS will receive a rapid genetic diagnosis and have access to effective medical and gene therapies to ensure they live longer, healthier, and happier lives.

Website: sgsfoundation.org
Twitter:  foundation_sgs

SCN2A

SCN2A Australia is formed of parents of children who have SCN2A. Although children have varying journeys, they are affected by SCN2A a devastating genetic mutation that causes death and severe disability for many children. They are dedicated to helping to develop treatments for SCN2A and developmental and epileptic encephalopathies (DEEs) and helping those working on and affected by DEEs better understand the conditions and live better lives.

They work with families, researchers, clinicians and professional bodies to improve the lives of those who have SCN2A and their families plus also produce a podcast and a series of webinars on SCN2A and genetic epilepsies.

Website: scn2aaustralia.org
Twitter:  SCN2AAustralia

SCN8A

As a first step, we would like to bring our vision and mission closer to you. SCN8A Germany is a platform that brings together families, researchers, and medical professionals to share information about SCN8A-associated epilepsy and related neurological disorders. We strive to advance research and diagnostics to find more effective treatments and to increase understanding of this impairment.

Website:  scn8agermany.de
Facebook: Private group

SCN8A Italia is formed of a group of families living with a loved one affected by SCN8A; a disabling gene mutation that has a huge, negative impact on both the lives of the people with the disease and on their families. We support one another and involve clinicians, researchers, and pharmaceutical companies to improve understanding of the pathology, and required individual therapies, aka "precision medicine". We fight for SCN8A patients and their families to have a better world.

Website:  scn8a.it
Facebook: scn8aitalia

SCN8A UK & Ireland SCN8A UK & Ireland was set up by a group of parents affected by SCN8A with the aims of promoting research, fundraising, and providing help and support for families with children and adults who have SCN8A.  We want to connect families who live in the UK and Ireland with each other for mutual support and information sharing. We also work collaboratively with groups from across Europe, America, and beyond.

Website:  scn8a.co.uk
Facebook: SCN8A-UK-Ireland

DLG4-related synaptopathy

Shine Syndrome is founded and run entirely by parents of children living with DLG4 Synaptopathy. We strive to build awareness for our growing community as well as to help provide funding for researchers around the world who are searching for answers and working to unravel the secrets of SHINE Syndrome. Through sharing our stories on this site, increasing visibility on social media, and participating in fundraising efforts, we can connect with newly diagnosed patients, provide a community for the families living with SHINE, and assist in finding strategies and treatments for those in need.

Website:  shinesyndrome.org/wp
Facebook: ShineSyndrome

STXBP1

The STXBP1 Foundation is a parent-led advocacy organisation dedicated to raising awareness and finding a cure for STXBP1 Encephalopathy, a rare neurodevelopmental condition, and genetic epilepsy.

We believe that through our work, we are accelerating the development of improved therapies and ultimately ending STXBP1 Encephalopathy.

Website: stxbp1disorders.org
Twitter:  curestxbp1

SYNGAP

Bridge The Gap SYNGAP are Bridging the Gap to Better Treatments and a Cure for SYNGAP1 Patients and Families. Our priorities include raising public awareness, patient and family advocacy initiatives, educational programs, scientific research conferences, and financial support for research. Our organisation's commitment to those affected by SYNGAP1, their families and caregivers, remains at the forefront of all we do. Our mission wholeheartedly embraces a collaborative approach to help accelerate research and improved outcomes.

Website: bridgesyngap.org
Twitter: bsyngap

The mission of the SYNGAP Research Fund is to improve the quality of life of SYNGAP1 patients through the research and development of treatments, therapies, and support systems. Completely parent-led, SRF is the largest non-government funder of SynGAP research. SYNGAP1-related non-syndromic intellectual disability is a rare genetic disorder caused by a variant of the SYNGAP1 gene.

SYNGAP1 variants are surprisingly common, with the incidence reported as 1-4 out of 10,000 individuals. This comprises approximately 1-2% of all Intellectual Disability (ID) cases, making it one of the most common genetic causes of ID, similar to more well-known syndromes like Fragile X, Angelman, and Rett.

Website: syngapresearchfund.org
Twitter: cureSYNGAP1