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Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features |
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| Authors: | Danah Aljaafari Alfonso Fasano Fábio A. Nascimento Anthony E. Lang Danielle M. Andrade |
| Affiliation: | 1. Division of Neurology, Krembil Neuroscience Centre, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada;2. Department of Neurology, King Fahad Hospital, University of Dammam, Dammam, Saudi Arabia;3. 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;4. Krembil Neurosciences Epilepsy Genetics Program, Toronto Western Hospital, University of Toronto, Toronto, Ontario, Canada |
| 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. |
| Keywords: | Epileptic encephalopathy Epilepsy SCN1A mutation Dravet Lennox‐Gastaut syndrome |