Dravet syndrome is a genetic developmental and epileptic
encephalopathy (DEE) mostly due to mutations in SCN1A gene.
Perampanel is a selective and non-competitive
alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (
AMPA) receptor antagonist. There is increasing experience in the use of
perampanel in this syndrome; however, there is still a lack of evidence of sustained benefit years after the beginning of the treatment. We report a twelve-year-old girl who was diagnosed with
Dravet Syndrome when she was 2 years old and has been on
perampanel since she was 7. Her genetic test showed a de novo previously described heterozygous SCN1A mutation in the 24th exon (c.4547C>A, p.Ser1516*). She received previous antiseizure
drug combinations with little benefit. When
perampanel was started, there was a complete resolution of her spontaneous
seizures that has continued five years later. More studies are needed to investigate if there is an association between this excellent response and the genotype of our patient.