Abstract Details

Title Epilepsy with Eyelid Myoclonia Associated with CHD2 Variants: Report of Two Cases

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P7 - Poster Session 7 (11:45 AM-12:45 PM)

Poster/Presentation
Number 1-002

Objective

To describe two cases of epilepsy with eyelid myoclonia (EEM) in the setting of CHD2 gene mutations.

Background EEM, previously known as Jeavons syndrome, is a childhood onset epilepsy syndrome characterized by eyelid myoclonia, photosensitivity, and eyelid closure-induced EEG seizures or paroxysms. While considered a genetic generalized epilepsy syndrome, genetic mutations are only rarely identified in patient, including mutations in the CHD2 gene, which encodes the chromodomain DNA helicase binding protein 2.

Design/Methods A database of 133 patients with EEM was searched to identify patients with CHD2 mutations. Charts of patients identified were reviewed to describe clinical presentation and evolution.

Results Of 133 patients with EEM, 35 had genetic testing consisting of an epilepsy gene panel and/or whole exome or genome sequencing. Of these, two patients had mutations in CHD2. The first patient was a male with autism spectrum disorder (ASD), learning disability, and attention deficit disorder (ADHD). Episodes of eyelid myoclonia started around 6 years of age and generalized tonic-clonic seizure at 11 years of age. EEG showed generalized atypical spike and wave discharges after eye-closure associated with eyelid myoclonia and a photo paroxysmal response. Genetic testing revealed a de novo CHD2 mutation, c.2636C>T (p.A8779V) variant. Convulsive seizures are well-controlled on lamotrigine, but eyelid myoclonia continues. The second case was a female with a history of ADHD, and ASD, who had events of eyelid myoclonia several times a day at 6 years old. EEG was consistent with EEM. Genetic testing revealed a de novo CHD2 mutation, c.3734delA, p.Lys1245Asnfs*4 variant. She continues to have eyelid myoclonia daily despite trials of ethosuximide, lamotrigine, clobazam, and valproic acid.

Conclusions We describe two patients with CHD2 mutations associated with EEM, in addition to ADHD and ASD expanding on the literature. CHD2 mutations should be considered in patients presenting with EEM, especially when ADHD and ASD are present.

Authors/Disclosures
Hannah Padilla PRESENTER	Miss Padilla has nothing to disclose.
Elaine C. Wirrell, MD, FAAN (Mayo Clinic/Dept of Child Neurology)	Dr. Wirrell has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biocodex. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Encoded. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurocrine. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for GRIN. Dr. Wirrell has received publishing royalties from a publication relating to health care.
Lily Wong-Kisiel, MD, FAAN (Mayo Clinic)	Dr. Wong-Kisiel has nothing to disclose.
Anthony L. Fine, MD (Mayo Clinic)	The institution of Dr. Fine has received research support from Neurocrine Biosciences. The institution of Dr. Fine has received research support from American Board of Psychiatry and Neurology.
Brendan Lanpher (Mayo Clinic)	No disclosure on file
Kelsey M. Smith, MD (Mayo Clinic)	The institution of Dr. Smith has received research support from CURE Epilepsy. The institution of Dr. Smith has received research support from UCB Pharmaceuticals.

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