Rarely, there is a family history of febrile seizures. A family history (usually of generalized seizures) is present in 20% of cases. There is one case report of a translocation resulting in a truncation in the SYNGAP1 gene causing epilepsy with myoclonic absences. SLC2A1 variants (1p34.2), causing GLUT1 deficiency, are one of the most common monogenic etiologies of myoclonic absences. In 30% of cases, a genetic cause can be found with possible polygenic etiologies. EtiologyĬurrently, the etiology is unidentified in the majority of cases. At presentation, approximately half the children are developmentally and neurologically normal a spectrum of learning disability is eventually seen in 70% of cases. Other seizure types (generalized tonic-clonic, atonic seizures and typical absences) occur in the majority of patients. ![]() Seizure onset is between 1 to 12 years of age (peak 7 years) and characterized by absences associated with rhythmical jerks of head/shoulders. Both sexes are affected, with a male predominance (70%). Exact incidence of this rare epilepsy syndrome is unknown.
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