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Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features

Aljaafari, Danah ; Fasano, Alfonso ; Nascimento, Fábio A. ; Lang, Anthony E. ; Andrade, Danielle M.

Epilepsia (Copenhagen), 2017-03, Vol.58 (3), p.e44-e48 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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Título:
Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features
Autor: Aljaafari, Danah ; Fasano, Alfonso ; Nascimento, Fábio A. ; Lang, Anthony E. ; Andrade, Danielle M.
Assuntos: Adolescent ; Adult ; Dravet ; Electroencephalography ; Epilepsies, Myoclonic - complications ; Epilepsies, Myoclonic - diagnosis ; Epilepsies, Myoclonic - genetics ; Epilepsy ; Epileptic encephalopathy ; Female ; Genotype & phenotype ; Humans ; Lennox Gastaut Syndrome - complications ; Lennox Gastaut Syndrome - diagnosis ; Lennox Gastaut Syndrome - genetics ; Lennox‐Gastaut syndrome ; Male ; Middle Aged ; Mutation - genetics ; NAV1.1 Voltage-Gated Sodium Channel - genetics ; Parkinsonian Disorders - etiology ; Parkinsonian Disorders - genetics ; Retrospective Studies ; SCN1A mutation ; Young Adult
É parte de: Epilepsia (Copenhagen), 2017-03, Vol.58 (3), p.e44-e48
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SourceType-Scholarly Journals-1
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Descrição: Summary 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.
Editor: United States: Wiley Subscription Services, Inc
Idioma: Inglês

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Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features

Aljaafari, Danah ; Fasano, Alfonso ; Nascimento, Fábio A. ; Lang, Anthony E. ; Andrade, Danielle M.

United States: Wiley Subscription Services, Inc

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