ArticleChild neurology open
A Case of a Seven-Year-old boy with Epilepsy with Myoclonic Absence: Importance of Seizure Semiology, Genetic Etiology, and Electroencephalogram Correlation for Timely Intervention.
Article in Child neurology open. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Who cites it
1 citing paper in PubMed, 4 citations in OpenAlex.
- Research progress on epilepsy with myoclonic absence.Acta epileptologica · 2025Review
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3 authors at 1 institution in 1 country.
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Abstract
Epilepsy with myoclonic absence (EMA) is a rare disorder with a mean age of onset of 7 years. It is characterized clinically by rhythmic, myoclonic jerking of the head, extremities or both, with impairment of consciousness and an ictal electroencephalogram (EEG) pattern of 3 Hz bilateral, synchronous and symmetrical spike and wave discharges. Prognosis is guarded and most patients are pharmaco-resistant. We present a case of EMA, found to have a FOXP1 gene pathogenic variation and a variance of unknown significance in the MBD5 gene, who was admitted to the intensive care unit in super-refractory status epilepticus. Given the overlap in symptoms of syndromes including myoclonic-astatic epilepsy, childhood absence epilepsy and juvenile myoclonic epilepsy, a detailed seizure semiology with EEG correlation, cannot be over emphasized. In this case, the genetic etiology may lend an interesting insight to the severity and prognosis.
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