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成人运动表型可将德雷维特综合征与伦诺克斯-加斯托综合征区分开来,并将SCN1A与早发性帕金森病特征联系起来。

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

作者信息

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

机构信息

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.

出版信息

Epilepsia. 2017 Mar;58(3):e44-e48. doi: 10.1111/epi.13692. Epub 2017 Feb 10.

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.

摘要

区分患有Lennox-Gastaut综合征的成年患者与患有Dravet综合征的成年患者具有挑战性。我们之前曾报道,患有Dravet综合征的患者呈现出非常特殊的运动表型。在此,我们试图证实这种关联并非与长期使用抗癫痫药物或终生多次癫痫发作有关。为此,我们研究了14名患有Lennox-Gastaut综合征的成年患者和14名患有Dravet综合征的成年患者,因为这两种病症的癫痫发作严重程度相似。我们发现,前颈倾和帕金森步态在Dravet组中明显更为常见,因此表明这些特征是Dravet综合征成年表型的一部分。

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