Our Work in Genetic and Rare Epilepsies

From our groundbreaking Infantile Spasms Initiative to more recent efforts on other rare epilepsies, CURE Epilepsy is focused on leveraging progress across diagnoses to push the whole field forward.

Areas of Focus

a commitment to understudied epilepsies

CURE Epilepsy tackles genetic and rare epilepsies in a variety of ways. Many rare epilepsies have proven to have a genetic cause. As science advances, more and more genes have been implicated in the epilepsies, allowing for the hope of more personalized medicine. Our Rare Epilepsy Partnership Award supports the development of necessary research tools, techniques, model systems, and data collection platforms to stimulate and accelerate research on rare epilepsies.

50%

of people with epilepsy don't know the cause

But genetic research is changing that. CURE Epilepsy has been focused on understanding the biological causes of rare epilepsies to advance genetic therapies and identify new targets for drug development.

Epilepsy Genetics Webinar

Our Infantile Spasms Research Initiative

With $4 million in funding, CURE Epilepsy launched the Infantile Spasms Initiative in 2013 as the first team science approach in the epilepsy research community. The initiative brought together eight researchers from different institutions to work as a team and study the pathology of infantile spasms. Collectively, the investigators studied the basic biology underlying IS, searched for biomarkers as well as novel drug targets, and developed improved treatments.

The team published their findings in 2020, and more exciting research is on the horizon. Key impacts from the Infantile Spasms Initiative include:

Discovered a potential treatment and acquired a patent to reduce spasms and decrease side effects
Identified the cell type and location where severe spasms start
Revealed that brain activity prior to spasms resembles a sleep cycle phase
Published 19 papers as a team to share new knowledge with other researchers in the field
Secured 3 National Institute of Health grants as a team, with more than $4.4 million in total expected funding

Infantile Spasms Initiative in Action

One of the CURE Epilepsy IS Initiative’s research groups, led by Dr. John Swann at the Baylor College of Medicine, focused its efforts on discovering novel drug targets and better treatment strategies to stop the spasms and the associated developmental delays.

The team identified that treatment with (1-3) IGF-1, a derivative of the growth hormone insulin-like growth factor 1 (IGF-1), reduced the spasms and irregular brain wave pattern in an animal model. Adding this compound to vigabatrin, an FDA-approved IS treatment, reduced the dose of vigabatrin required to eliminate the spasms. Diminishing the dosage also decreased the risk of serious side effects, including the potential for irreversible peripheral vision loss.

The Swann lab patented this combination treatment and used the discovery to obtain two National Institutes of Health (NIH) grants. One of these grants, totaling approximately $350,000 over five years, will investigate the molecular basis for the combination therapy. Through the second grant, the team will work to establish a specific IS rodent model for identifying more effective, less toxic therapies.

Learn more about infantile spasms research

CURE Epilepsy Discoveries

CURE Epilepsy Grantee Discovers Specific Alterations in the Inhibitory Neurotransmitter System in Infantile Spasms (IS)

The Epilepsy Genetics Initiative (EGI)

Made possible by a generous contribution from the John and Barbara Vogelstein Foundation, EGI (2015-2020) created a centralized database that holds the genetic (whole exome sequence) data of people with epilepsy. The initiative advanced our understanding of the genetic causes of epilepsy with a goal of improving the ways we prevent, diagnose, and treat this devastating neurological disorder.

9%

improvement in diagnostic yield of whole exome sequencing from reanalysis due to EGI

This illustrates the importance of reanalysis of genetic data over time to discover new diagnoses for individuals with epilepsy, but also to aid in identifying new evidence that some genetic mutations do not contribute to an individuals epilepsy, which may save patients from unnecessary interventions.

16

identified mutations not initially flagged in whole exome screening

Genes mutations identified included ATP1A3, CSNK2B, EEF1A2, EHMT1, FGF12, HNRNPU, KDM3B, MAST1, RHOBTB2, RORA, RSRC1, SCAF4, SCN8A (2), SETD1A, and WASF1.

Our Epilepsy with Eyelid Mycolonia (EEM) / Jeavons Syndrome Research Initiative

With the EEM / Jeavons Syndrome Initiative, CURE Epilepsy is responding to unmet needs in an underserved epilepsy syndrome. Using our expertise, network, and resources, CURE Epilepsy has jumpstarted efforts in hopes of catalyzing further interest and investment from the community.

EEM / Jeavons Syndrome Overview

Webinar with Dr. Kelsey Smith of the Mayo Clinic

More Webinars

Seizing Life: A Young Woman's Journey with Jeavons Syndrome

CURE Epilepsy Discovery on EEM

Patient Health Data Collection Program Kickoff

EEM/ Jeavons Syndrome Initiative phases to date have included:

Creation of an international steering committee composed of expert neurologists, researchers and patient advocates to summarize existing knowledge, develop consensus about the diagnostic approach and clinical management of EEM and identify areas where further study is needed.
Review of existing literature
Use of the modified Delphi consensus process, which included three rounds of surveys to 25 physicians and 5 patients/caregivers, to develop a consensus on diagnosis and treatment
- Consensus paper #1 (clinical presentation and evaluation)
- Consensus paper #2 (management)
Awareness efforts to connect patients to research and galvanize the community
The launch of a Patient Health Data Collection Program with Rare-X to provide a place for the community to aggregate robust, secure patient data for use by medical researchers to accelerate research progress on Jeavons Syndrome. Watch the program launch webinar here!

Other Support

Educational Impacts

While cognition and development are typically normal in people with Jeavons syndrome, school difficulties and attention problems may occur. There are anecdotal reports of elevated ADHD diagnoses. There may be a need for Individualized Educations Plans (IEPs) or other learning support. Teachers may incorrectly misinterpret eyelid myoclonia as “sass” or eye-rolling or think that absence seizures are kids “just daydreaming.” Parents of children with Jeavons syndrome may also want to discuss the impact of screen time and sensitivity to light with teachers as well as healthcare providers.

Community

There is currently no 501c3 nonprofit devoted to advocacy for Jeavons syndrome. Some CURE Epilepsy community members have found a Jeavons syndrome Facebook group to be helpful and to provide a way to share experiences with others, but we cannot speak to the accuracy of information in such online communities; you should always discuss treatments with your healthcare provider.

Like many in the epilepsy community, people with Jeavons syndrome may experience stigma and discrimination. We invite you to check out our “Say the Word Say Epilepsy” campaign, that aims to combat harmful stigma and encourages people to use the word epilepsy to increase awareness and understanding in the general public.

Other resources of interest may include:

Research

Limited research has been conducted on Jeavons syndrome. Previously published papers before CURE Epilepsy’s Epilepsy with Eyelid Myoclonia (EEM) / Jeavons Syndrome Initiative include:

Cerulli Irelli E, Cocchi E, Ramantani G, Caraballo RH, Giuliano L, Yilmaz T; EMA Study Group. Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences. Neurology. 2022 May 3;98(18):e1865-e1876. doi: 10.1212/WNL.0000000000200165. Epub 2022 Mar 15. PMID: 35292555.
Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, et al. The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study Epilepsia. 2022 Oct 28.
Specchio N, Wirrell EC, Scheffer IE, Nabbout R, Riney K, Samia P, et al. International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions Epilepsia. 2022 May 3.
Striano P, Sofia V, Capovilla G, Rubboli G, Di Bonaventura C, Coppola A, et al. A pilot trial of levetiracetam in eyelid myoclonia with absences (Jeavons syndrome) Epilepsia. 2008 Mar;49:425-430.
Zawar I, Toribio MGG, Xu X, Alnakhli RS, Benech D, Valappil AMN, et al. Epilepsy with Eyelid myoclonias – A diagnosis concealed in other genetic generalized epilepsies with photoparoxysmal response Epilepsy Res. 2022 Mar;181:106886.
Zawar I, Pestana Knight EM. An Overview of the Electroencephalographic (EEG) Features of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome) Neurodiagn J. 2020 Jun;60:113-127.

There are currently no clinical trials for Jeavons syndrome.

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Our Work in Genetic and Rare Epilepsies

From our groundbreaking Infantile Spasms Initiative to more recent efforts on other rare epilepsies, CURE Epilepsy is focused on leveraging progress across diagnoses to push the whole field forward.

a commitment to understudied epilepsies

of people with epilepsy don't know the cause

Our Infantile Spasms Research Initiative

Infantile Spasms Initiative in Action

Learn more about infantile spasms research

CURE Epilepsy Grantee Discovers Specific Alterations in the Inhibitory Neurotransmitter System in Infantile Spasms (IS)

Infantile Spasms – Part 2: The Hope of Research

Infantile Spasms

Diagnostic and Treatment Challenges of Infantile Spasms

The Epilepsy Genetics Initiative (EGI)

improvement in diagnostic yield of whole exome sequencing from reanalysis due to EGI

identified mutations not initially flagged in whole exome screening

Our Epilepsy with Eyelid Mycolonia (EEM) / Jeavons Syndrome Research Initiative

Webinar with Dr. Kelsey Smith of the Mayo Clinic

EEM/ Jeavons Syndrome Initiative phases to date have included:

Other Support

Educational Impacts

Community

Research