Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features
Adult motor phenotype differentiates Dravet syndrome from Lennox‐Gastaut syndrome and links SCN1A to early onset parkinsonian features
复制标题
成人运动表型区分 Dravet 综合征和 Lennox-Gastaut 综合征，并将 SCN1A 与早发性帕金森病特征联系起来
作者：
Danah Aljaafari;A. Fasano;F. Nascimento;A. Lang;D. Andrade
区分患有伦诺克斯-加斯特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。我们以前曾报道过Dravet综合征患者表现出一种非常特殊的运动表型。在这里，我们试图证实这种关联与抗癫痫药物的长期使用或多次终身癫痫发作无关。为此，我们研究了14例伦诺克斯-加斯托综合征成人患者和14例Dravet综合征成人患者，因为这两种疾病的癫痫发作严重程度相似。我们发现，前倾和帕金森步态是显着更常见的Dravet组，从而表明这些功能的Dravet综合征成人表型的一部分。
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.