title: Adult motor phenotype differentiates Dravet syndrome from Lennox-Gastaut syndrome and links SCN1A to early onset parkinsonian features.
abstract: 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.
authors.affiliation: Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.|Department of Neurology, King Fahad Hospital, University of Dammam, Dammam, Saudi Arabia.
authors.forename: Danah
authors.identifier: 0000-0003-0122-7875
authors.initials: D
authors.lastname: Aljaafari
authors.affiliation: Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.|Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Krembil Neuroscience Centre, Toronto Western Hospital, Toronto, Ontario, Canada.
authors.forename: Alfonso
authors.initials: A
authors.lastname: Fasano
authors.affiliation: Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.|Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Fábio A
authors.initials: FA
authors.lastname: Nascimento
authors.affiliation: Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.|Morton and Gloria Shulman Movement Disorders Clinic and the Edmond J. Safra Program in Parkinson's Disease, Krembil Neuroscience Centre, Toronto Western Hospital, Toronto, Ontario, Canada.
authors.forename: Anthony E
authors.initials: AE
authors.lastname: Lang
authors.affiliation: Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.|Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada.
authors.forename: Danielle M
authors.initials: DM
authors.lastname: Andrade
mesh_terms: D000293:Adolescent; D000328:Adult; D004569:Electroencephalography; D004831:Epilepsies, Myoclonic / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D005260:Female; D006801:Humans; D065768:Lennox Gastaut Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000209:etiology* / Q000235:genetics; D012189:Retrospective Studies; D055815:Young Adult
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human
keywords: Dravet; Epilepsy; Epileptic encephalopathy; Lennox-Gastaut syndrome; SCN1A mutation