• Disease Overview
  • Synonyms
  • Subdivisions
  • Signs & Symptoms
  • Causes
  • Affected Populations
  • Disorders with Similar Symptoms
  • Diagnosis
  • Standard Therapies
  • Clinical Trials and Studies
  • References
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Epilepsy with Eyelid Myoclonia

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Last updated: 7/11/2023
Years published: 2023


Acknowledgment

NORD gratefully acknowledges Kelsey M. Smith, MD, Mayo Clinic, and the steering committee for the “Goals for Advancing Awareness and Research on Jeavons Syndrome” program of CURE Epilepsy for the preparation of this report.


Disease Overview

Epilepsy with eyelid myoclonia (EEM) is a genetic generalized epilepsy syndrome with an average age of onset between 6-8 years. Patients typically present in childhood with prominent eyelid myoclonia, which is a jerking or flickering up of the eyelids associated with the eyes rolling up. This typically happens many times a day. Patients may be misdiagnosed, as eyelid myoclonia may be mistaken as a tic or a behavioral reaction and these children are often referred to a psychologist or psychiatrist. Eyelid myoclonia may be associated with absence seizures and eye closure sensitivity, and other seizure types may also be present. Intellectual ability and development are typically normal, but school difficulties and attention problems may occur. The underlying cause is thought to be genetic, and studies suggest that many different genes may be involved. Seizures typically persist for life and drug-resistant epilepsy is common.

Sunflower syndrome was classified as a subgroup of EEM termed “EEM with prominent photic induction” in the 2022 classifications by the International League Against Epilepsy. These patients display sun-seeking behavior with hand waving in front of the eyes, which may trigger seizures.

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Synonyms

  • Eyelid myoclonia with or without absence
  • Jeavons syndrome
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Subdivisions

  • Sunflower syndrome
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Signs & Symptoms

EEM consists of the following three characteristics: 1) eyelid myoclonia with or without absence seizures, 2) eye closure induced seizures or EEG paroxysms and 3) sensitivity to light (photosensitivity). Eyelid myoclonia is required for the diagnosis, which is defined as a jerking, flickering or fluttering of the eyelids usually associated with upward deviation of the orbit and can be associated with a tendency for the head to go backwards (retropulsion of the head). Eyelid myoclonia is typically prominent and the most difficult to control seizure type. Eyelid myoclonia can be induced by eye closure, especially in sunlight or other bright lights and may be associated with loss of awareness, known as absence seizures.

Other seizure types may be present including myoclonic seizures, where there are brief jerks of the extremities. Generalized tonic-clonic seizures are seen in most patients but are usually infrequent. With these seizures, patients lose control and have jerking movements of all their extremities.

Intellectual ability is typically normal, but eyelid myoclonia may interfere with schoolwork and attention problems may be present. Patients may also have anxiety and depression, as these are common conditions seen in patients with epilepsy. Patients with Sunflower syndrome often have developmental delays.

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Causes

The underlying cause of EEM is thought to be genetic, which is supported by a positive family history of epilepsy in many patients and cases in twins. Many different genes may be involved and in recent years, changes (variants) in specific genes have been recognized in a minority of patients, including the genes RORB, SYNGAP1, KCNB1, NAA10, COL6A3, NEXMIF and CHD2. An underlying gene variant may influence the severity and prognosis. In many patients, a specific gene variant may not be identified at this time. Further research is needed to clarify the role of genetics in this disorder.

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Affected populations

EEM affects about twice as many females than males. Onset is between the ages of 1-15 years with a peak from 6-8 years of age. EEM accounts for only about 1.2-2.7% of patients with epilepsy.

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Diagnosis

EEM is diagnosed based on the presence of three features that include eyelid myoclonia with or without absence seizures, eye closure-induced seizures or EEG paroxysms and photosensitivity. Making the diagnosis requires a thorough clinical history, neurological examination and an EEG. An EEG capturing eyelid myoclonia or other seizures is not required to make the diagnosis if eyelid myoclonia is witnessed on exam by a healthcare provider and other features of the diagnosis are seen on EEG. An MRI of the brain is not required for the diagnosis, but when done is typically normal or shows nonspecific changes unrelated to epilepsy.

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Standard Therapies

Treatment for EEM consists of broad-spectrum antiseizure medications, including valproic acid, levetiracetam, lamotrigine and clobazam. Modern antiseizure medications like lacosamide, brivaracetam and perampanel are also options, but more experience and research are needed to determine the best treatment. The response to different antiseizure medications can vary between patients, and trials of multiple medications may be necessary. In addition, all antiseizure medications have possible side effects that may limit their use and patients should discuss this with their doctors. For patients with significant photosensitivity, sometimes lens therapy can be effective at reducing seizures. Special lenses have been studied but are not readily available worldwide. In addition, these lenses significantly reduce brightness (luminance), and therefore, may not be well tolerated.

Additional therapies may include dietary therapy such as the ketogenic diet, modified Atkins diet and low glycemic index diet. These diets are high in fat and low in carbohydrates and require a significant amount of commitment. Patients typically work closely with their doctor and a nutritionist for dietary therapies. Monitoring may be required, and side effects can be seen.

Less is known about the use of more advanced treatments for epilepsy, such as a vagus nerve stimulator and responsive neurostimulation, for EEM specifically.

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Clinical Trials and Studies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.

For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:

Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]

Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/

For information about clinical trials sponsored by private sources, contact:
www.centerwatch.com

For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/

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References

Smith KM, Wirrell EC, Andrade DM, Choi H, Trenite DK, Knupp KG, et al. A comprehensive narrative review of epilepsy with eyelid myoclonia Epilepsy Res. 2023 Apr 26;193:107147.

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.

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.

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.

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