Acute encephalopathy in Dravet syndrome: Case reports and literature review

ABSTRACT

Dravet syndrome is a rare and catastrophic type of epilepsy in infants. Acute encephalopathy has been sporadically reported in patients with Dravet syndrome; however, the risk factors for this serious complication have not been identified. We report two patients with a clinical diagnosis of Dravet syndrome who experienced acute encephalopathy initiated by refractory status epilepticus. SCN1A mutational analysis revealed a previously reported nonsense mutation in one patient and a novel missense mutation in the other. Analysis of our cases and previously published cases revealed that patients with Dravet syndrome who have a more severe phenotype have an increased likelihood of developing acute encephalopathy compared with patients with less severe phenotypes.