DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome

Case presentation: A 12-year-old girl presented with recurrent tonic-clonic seizures, alternating interictal sleepiness and confusion, after an initial picture of two days fever flu-like symptoms. The patient developed a refractory status epilepticus was intubated remained in coma for 30 days. had previous history mild neurodevelopmental delay diagnosis mental retardation. At seven years old, the started to present later, behavioral changes, unbalanced gait, sudden brief jerks, consistent eyelids myoclonus, multifocal erratic myoclonus generalized that worsened anxiety sound. examination ataxic dysmetria. During investigation, electroencephalogram showed polyspikes wave discharges, bifrontal predominance. brain magnetic resonance image cortical atrophy, subcortical vacuolar lesions both cerebral hemispheres, laminar necrosis underlying thinning. Hematologic then, anti-neuronal antibodies cerebrospinal fluid (CSF) were normal. Thus, exome sequencing performed, revealing de novo pathogenic variant DNM1L gene.