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Article

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing

13 Dec 2023

Abstract excerpt

OBJECTIVE: Epilepsy with eyelid myoclonia (EEM) spectrum is a generalized form of epilepsy characterized by eyelid myoclonia with or without absences, eye closure-induced seizures with electroencephalographic paroxysms, and photosensitivity. Based on the specific clinical features, age at onset, and familial occurrence, a genetic cause has been postulated. Pathogenic variants in CHD2, SYNGAP1, NEXMIF, RORB, and...

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PMID: 38088023
DOI: 10.1111/epi.17859

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