Adolescent, Adult, Electroencephalography, Female, Humans, Male, Middle Aged, Parkinsonian Disorders genetics, Retrospective Studies, Young Adult, Epilepsies, Myoclonic complications, Epilepsies, Myoclonic diagnosis, Epilepsies, Myoclonic genetics, Lennox Gastaut Syndrome complications, Lennox Gastaut Syndrome diagnosis, Lennox Gastaut Syndrome genetics, Mutation genetics, NAV1.1 Voltage-Gated Sodium Channel genetics, and Parkinsonian Disorders etiology

Distinguishing adult patients with Lennox-Gastaut syndrome from those with Dravet syndrome is challenging. We have previously reported that patients with Dravet syndrome present a very peculiar motor phenotype. Here we sought to confirm that this association was not linked to the chronic use of antiepileptic drugs or the many lifetime seizures. To this aim, we studied 14 adult patients with Lennox-Gastaut syndrome and 14 adults with Dravet syndrome because both conditions share similar seizure severity. We found that antecollis and parkinsonian gait were significantly more common in the Dravet group, thus suggesting that these features are part of the Dravet syndrome adult phenotype.
(Wiley Periodicals, Inc. © 2017 International League Against Epilepsy.)