Myoclonic-astatic epilepsy
Synonyms: Doose syndrome | EMAS | Epilepsy with myoclonic-astatic seizures | Epilepsy with myoclonic-atonic seizures | MAE | Myoclonic atonic epilepsy | Myoclonic-astatic epilepsy in early childhood
A rare childhood onset epilepsy syndrome characterized by multiple seizure types including myoclonic-atonic (MA) seizures that occur usually in previously healthy children.
Newly diagnosed with
Myoclonic-astatic epilepsy?
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
Advocacy Organizations
SLC6A1 Connect
SLC6A1 Connect is a patient advocacy group dedicated to improving the lives of children and families affected by SLC6A1. SLC6A1 epileptic encephalopathy is a rare neurological condition in small children that causes seizures, severe movement and speech disorders and intellectual disability. Our group is led by and comprised of passionate and relentless parents of kids with SLC6A1. Our mission is to advance scientific research that will ultimately result in a disease modifying treatment.
Cookies4Cures
Funding research into rare pediatric diseases
Mickie’s Miracles
To help families get into Level IV Pediatric Epilepsy Centers for diagnosis and treatment urgently -- and provide support to families for every season of the pediatric epilepsy journey.
Genetic Epilepsy Team Australia
Collaboration of research and care
Moonshots for Unicorns
Curing single-gene disorders
COMBINEDBrain Inc
COMBINEDBrain is a consortium for outcome measures and biomarkers for neurodevelopmental disorders. We are collaborating to cure rare, non-verbal brain disorders.
Syndromes Without A Name (SWAN) Australia
Provide information, support and advocacy to families caring for a child with an undiagnosed or rare genetic condition.
Center for Chronic Illness
The Center for Chronic Illness (CCI) promotes well-being and decreases isolation for those impacted by ongoing health challenges through support and education.
Inclusive Skating
TO INCLUDE, INFORM AND INSPIRE people around the globe through the joy of skating, reflecting the compassion, respect and innovation that make ours the world’s premier inclusive organisation. Inclusive Skating is dedicated to the advancement of public participation in sport and the promotion of equality and diversity. Our primary objective is the development and implementation of programming which fosters the inclusion of skaters with any form of impairment or disability. Our ethos of inclusion extends to skaters of all ages and backgrounds; we welcome all with open arms. Values of empathy, integrity and empowerment are central to the pursuit of these goals. We believe that everyone should have the opportunity to experience the community, camaraderie, self-fulfilment, achievement, challenge, and thrill that participation in skating sports offers. We work to create these opportunities by offering activities, educational resources, events, training, and championships for our community.
Rare Disease Ghana Initiative
To improve the wellbeing and quality of life of persons living with undiagnosed and rare diseases in Ghana
Our Odyssey
Connecting young adults impacted by a rare or chronic condition with social and emotional support in the hope of improving their quality of life.
Jamal’s Helping Hands
Jamal's Helping Hands provides services for patients affected by rare disease and their families. With a vision to become a premier resource and national leader in education, outreach, advocacy, and support to individuals affected by rare disease. JHH enhances the quality of its clients lives by providing an array of services to make the experience of rare disease easier.
Patient Advocate Foundation
Patient Advocate Foundation (PAF), founded in 1996, is the nation’s leading direct patient services organization whose mission is to safeguard patients with chronic, life-threatening, and debilitating diseases through effective mediation of issues related to access to care and preservation of financial stability. Patients must be seeking help with any of the following needs related to their diagnosis: • Accessing prescribed healthcare, including understanding their healthcare benefits • Issues related to their health insurance benefits, including denials of care, out-of-pocket costs, network issues, and insurance options • Financial concerns, including cost-of-living expenses and medical expenses • Practical needs, including transportation and nutritional needs • Assistance with filing an application for disability Since its inception, PAF has provided direct, sustained patient assistance to more than 1.7 million patients and touched many more through its website and outreach events. Amongst the more common issues that patients and caregivers call PAF for help with include the inability to afford transportation expenses, inability to afford rent/mortgage, inability to afford their co-pay for medications, and inability to afford utilities and resulting shut-off notices. PAF serves patients with numerous health conditions, the majority of which have some form of cancer. Non-cancer diagnoses included rare diseases, chronic and debilitating conditions, nervous system conditions, cardiovascular conditions and vascular disease, autoimmune diseases, and diabetes. PAF solicits and receives donations to its programs from a multitude of sources including government agencies, non-profit organizations and for-profit organizations in the healthcare sector, including pharmaceutical manufacturers and healthcare providers. Patient Advocate Foundation also has several distinct programs targeting specific populations with an emphasis on the underserved.
Botswana Organisation for rare Diseases
advocate for Rare disease patients and their families
Rare Disorders Kenya
Provide a strong common voice to advocate for a rare disease health policy and a better healthcare system that works for those with rare diseases
Youth and Women for Opportunities Uganda-YWOU
Youth and Women for Opportunities-YWOU an organization that we represent is patient organization re-presentative, patient and institution and individual capacity builder supporting PLWRD’s to obtain diagnosis, treatment and drugs for those suffering consequences of being undiagnosed or misdiagnosed and lack treatment and those who lack precise diagnosis for rare, orphan and undiagnosed diseases preventing PLWRD’s accessing the most adapted care, treatment or surgery, have delayed access to the most appropriate care, treatment or surgery
Indo US Organization for Rare Diseases (IndoUSrare)
Our mission is to help establish and sustain patient-centric education, awareness, training, research, and engagement programs aligned with the FDA’s patient focused drug development (PFDD) paradigm in the following ways: 1. Diversity Patients Alliance Program: Advocate for global diversity, equity, and inclusion in clinical trials and improve access to clinical research as a care option for patients living with rare diseases. Collaborate for public health policy development & implementation such as Rare Disease and Orphan Drug Policies between USA, India and other countries. 2. Patient Concierge: Connect patients living with rare diseases in India, USA, and globally with clinical trials, patient advocacy groups, research, and international Consortia such as Global Genes, IRDiRC, NORD, RARE-X, RDI, and UDNI. 3. Research Programs: Conduct and facilitate cross-border research collaborations for genetic disorders. 4. Corporate Diversity Advisory Council (CDAC): will bring together biotech, pharma, and medical device sponsors, diagnostic companies, and other stakeholders of the life science industry as members of this council to set the agenda for advocacy and pre-competitive cooperation. 5. Bring together stakeholders of rare diseases by organizing national and international conferences
Clinical Trials
For a list of clinical trials in this disease area, please click here.