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An 8-year-old boy with generalized myoclonic epilepsy followed by progressive cognitive decline presented with worsening myoclonus despite being compliant with prescribed clobazam. The movements (Video 1) in conjunction with a worsening cognitive status over time were concerning for a progressive myoclonic epilepsy. Initial EEG captured frequent myoclonic seizures time-locked with spike-wave activity (Figure). Overnight EEG revealed normal sleep architecture. His seizures stopped with valproic acid load. Genetic testing revealed a heterozygous pathogenic variant in NEXMIF (c.2478_2479dup), which is associated with NEXMIF encephalopathy. NEXMIF encephalopathy is characterized by mild to severe intellectual disability and includes myoclonic seizures, absence seizures, and atonic seizures.1
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Submitted and editor reviewed. The handling editor was Editor-in-Chief José G. Merino, MD, MPhil, FAHA, FAAN.
- Received August 26, 2022.
- Accepted in final form November 9, 2022.
- © 2022 American Academy of Neurology
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