PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity

Trivisano Marina; Pietrafusa Nicola; di Ciommo Vincenzo; Cappelletti Simona; de Palma Luca; Terracciano Alessandra; Bertini Enrico; Vigevano Federico; Specchio Nicola

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PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity

机译：PCDH19相关性癫痫和Dravet综合征：两次发烧敏感的早期发作癫痫之间的对峙

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Aim of this study is to compare PCDH19-related epilepsy and Dravet Syndrome (DS) in order to find out differences between these two infantile epilepsies with fever sensitivity.

机译：这项研究的目的是比较PCDH19相关的癫痫病和Dravet综合征（DS），以发现这两种对小儿癫痫有发热敏感性的区别。

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来源
《Epilepsy research》 |2016年第null期|共5页
作者
Trivisano Marina; Pietrafusa Nicola; di Ciommo Vincenzo; Cappelletti Simona; de Palma Luca; Terracciano Alessandra; Bertini Enrico; Vigevano Federico; Specchio Nicola;
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正文语种 eng
中图分类神经病学;
关键词
PCDH19-related epilepsy; Dravet Syndrome; SCN1A; Genetic epilepsy; Epilepsy classification;

机译：PCDH19相关性癫痫;Dravet综合征;SCN1A;遗传性癫痫;癫痫分类;

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1. PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity [J] . Trivisano Marina, Pietrafusa Nicola, di Ciommo Vincenzo, Epilepsy research . 2016,第Null期

机译：PCDH19相关性癫痫和Dravet综合征：两次发烧敏感的早期发作癫痫之间的对峙
2. Febrile Seizure Plus and PCDH19-Related Epilepsy Syndromes [J] . Journal of pediatric epilepsy . 2019,第3期

机译：Febriere Seizure Plus和PCDH19相关的癫痫综合征
3. Extending the use of stiripentol to other epileptic syndromes: A case of PCDH19-related epilepsy [J] . Trivisano Marina, Specchio Nicola, Vigevano Federico European journal of paediatric neurology: EJPN : official journal of the European Paediatric Neurology Society . 2015,第2期

机译：将替替太酚的使用扩展到其他癫痫综合征：一例与PCDH19相关的癫痫
4. Canonical polyadic and block term decompositions to fuse EEG, phenotypic scores, and structural MRI of children with early-onset epilepsy [C] . Noramon Dron, Richard F.M. Chin, Javier Escudero European Signal Processing Conference . 2020

机译：典型的多adiC和障碍术语分解对熔断器EEG，表型分数和早期癫痫儿童的结构MRI
5. Intractable Epilepsy: Does Perception of Epilepsy Stigma Affect Levels of Caregiver Burden? [D] . Hansen, Barbara. 2017

机译：顽固性癫痫：癫痫柱头的知觉会影响护理人员的负担水平吗？
6. GABRG2 Mutations Associated with a spectrum of epilepsy syndromes from Generalized Absence Epilepsy to Dravet syndrome [O] . Jing-Qiong Kang, Robert L. Macdonald -1

机译：GABRG2突变与从广泛性癫痫到Dravet综合征的一系列癫痫综合征相关
7. Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons [O] . Charles A. Steward, Jolien Roovers, Marie-Marthe Suner, 2019

机译：系统重新注释191个与早期癫痫患者联合的Novo变体相关的基因，与Dravet综合征在新的SCN1A外显子相关联

PCDH19-related epilepsy and Dravet Syndrome: Face-off between two early-onset epilepsies with fever sensitivity

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