Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel

• Published in: Epilepsia (Copenhagen) 2023-09, Vol.64 (9), p.2330-2341
• Main Authors: Smith, Kelsey M, Wirrell, Elaine C, Andrade, Danielle M, Choi, Hyunmi, Trenité, Dorothée Kasteleijn-Nolst, Jones, Hannah, Knupp, Kelly G, Mugar, Jon, Nordli, Jr, Douglas R, Riva, Antonella, Stern, John M, Striano, Pasquale, Thiele, Elizabeth A, Zawar, Ifrah
• Format: Article
• Language: English
• Subjects: Caregivers; Convulsions & seizures; Diagnosis; EEG; Epilepsy; Eyelid; Genetic screening; Intellectual disabilities; Magnetic resonance imaging; Reclassification; Seizures
• ISSN: 0013-9580; 1528-1167
• DOI: 10.1111/epi.17683

The objective of this study was to determine areas of consensus among an international panel of experts for the clinical presentation and diagnosis of epilepsy with eyelid myoclonia (EEM; formerly known as Jeavons syndrome) to improve a timely diagnosis. An international steering committee was convened of physicians and patients/caregivers with expertise in EEM. This committee summarized the current literature and identified an international panel of experts (comprising 25 physicians and five patients/caregivers). This international expert panel participated in a modified Delphi process, including three rounds of surveys to determine areas of consensus for the diagnosis of EEM. There was a strong consensus that EEM is a female predominant generalized epilepsy syndrome with onset between 3 and 12 years of age and that eyelid myoclonia must be present to make the diagnosis. There was a strong consensus that eyelid myoclonia may go unrecognized for years prior to an epilepsy diagnosis. There was consensus that generalized tonic-clonic and absence seizures are typically or occasionally seen in patients. There was a consensus that atonic or focal seizures should lead to the consideration of reclassification or alternate diagnoses. There was a strong consensus that electroencephalography is required, whereas magnetic resonance imaging is not required for diagnosis. There was a strong consensus to perform genetic testing (either epilepsy gene panel or whole exome sequencing) when one or a combination of factors was present: family history of epilepsy, intellectual disability, or drug-resistant epilepsy. This international expert panel identified multiple areas of consensus regarding the presentation and evaluation of EEM. These areas of consensus may be used to inform clinical practice to shorten the time to the appropriate diagnosis.