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April 9, 2024Neurology

Epilepsy with Eyelid Myoclonia Associated with CHD2 Variants: Report of Two Cases (P7-1.002)

Hannah Padilla Elaine Wirrell Lily C. Wong‐Kisiel Anthony L. Fine Brendan C. Lanpher Kelsey Smith

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Abstract

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

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Cite This Study

Padilla et al. (2024) studied this question.

synapsesocial.com/papers/68e6fcc5b6db643587677446 https://doi.org/10.1212/wnl.0000000000205794

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Blink‐induced epileptic negative myoclonus in <scp>CHD2</scp> ‐related epilepsy: A novel seizure semiology linked to visual transient hyperexcitabilityReview · 2026 · 1 citations
2Novel Genetic Variants of the CHD2 Gene in cis Position in a Patient with Epileptic Encephalopathy: A Case Report and In Silico Analysis of the Impact of the Variants on the ProteinCase Report · 2026
3Epilepsy with eyelid myoclonia in a patient with <i>ATP1A3</i>‐related neurologic disorder2024 · 3 citations
4Epilepsy with eyelid myoclonia in a patient with CUX1 ‐related disorderOriginal Research · 2026
5Case series of Epilepsy with Palpebral Myoclonus2025