Epileptic Disorders


DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome Volume 24, numéro 5, October 2022


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1 Unidade de neuropediatria, Departamento de Pediatria, Universidade Federal do Paraná, Curitiba, Brazil
2 Pontifícia Universidade Católica do Paraná, Departamento de Medicina Interna, Curitiba, Brazil
3 Instituto de Neurologia de Curitiba (INC), Curitiba, Brazil
4 Unidade de neurologia, Departamento de Medicina Interna, Universidade Federal do Paraná, Curitiba, Brazil
Gustavo L. Franklin
Rua Amazonas 691/81, Curitiba, PR, 80610-030, Brazil

To the Editor,We read with great interest the manuscript by Minghetti et al. [1] and we would like to add another case report which has some characteristics in common, that may allow us to trace a clinical profile in order to aid early diagnosis. Here, we present a patient with a DNM1L variant, who presented with a progressive myoclonic epilepsy phenotype and developed a febrile infection-related epilepsy syndrome, with refractory status epilepticus.A 12-year-old girl was admitted to the intensive [...]