Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy

Dilena Robertino; Striano Pasquale; Gennaro Elena; Bassi Laura; Olivotto Sara; Tadini Laura; Mosca Fabio; Barbieri Sergio; Zara Federico; Fumagalli Monica

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Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy

机译：钠通道阻滞剂在SCN2A早期婴儿癫痫脑病的疗效

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摘要

Background: Recent clinical evidence supports a targeted therapeutic approach for genetic epileptic encephalopathies based on the molecular dysfunction.

机译：背景：最近的临床证据支持基于分子功能障碍的遗传癫痫脑病的有针对性的治疗方法。

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来源
《Brain & Development 》 |2017年第4期| 共4页
作者
Dilena Robertino; Striano Pasquale; Gennaro Elena; Bassi Laura; Olivotto Sara; Tadini Laura; Mosca Fabio; Barbieri Sergio; Zara Federico; Fumagalli Monica;
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作者单位

Fdn IRCCS Ca Granda Osped Maggiore Policlin Unit Clin Neurophysiol Serv Pediat Epileptol Milan;

Univ Genoa Pediat Neurol &

Muscular Dis Unit Dept Neurosci Rehabil Ophtalmol Genet Maternal &

EO Osped Galliera Lab Genet Genoa Italy;

Univ Milan Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan NICU Milan Italy;

Fdn IRCCS Ca Granda Osped Maggiore Policlin Child &

Adolescent Neuropsychiat Serv UONPIA Milan;

Fdn IRCCS Ca Granda Osped Maggiore Policlin Unit Clin Neurophysiol Serv Pediat Epileptol Milan;

Univ Milan Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan NICU Milan Italy;

Fdn IRCCS Ca Granda Osped Maggiore Policlin Unit Clin Neurophysiol Serv Pediat Epileptol Milan;

Univ Milan Fdn IRCCS Ca Granda Osped Maggiore Policlin Milan NICU Milan Italy;

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原文格式 PDF
正文语种 eng
中图分类神经病学与精神病学 ;
关键词
SCN2A; Early infantile epileptic encephalopathy; Sodium channel blockers; Carbamazepine; Phenytoin;

机译：scn2a;早期婴儿癫痫脑病;钠通道阻滞剂;carbamazepine;phenytoin;

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专利

1. Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy [J] . Dilena Robertino, Striano Pasquale, Gennaro Elena, Brain & Development . 2017 ,第4期

机译：钠通道阻滞剂在SCN2A早期婴儿癫痫脑病的疗效
2. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a de novo missense mutation in the scn2a gene [J] . HackenbergA., BaumerA., StichtH., Neuropediatrics . 2014 ,第4期

机译：scn2a基因从头错义突变引起的婴儿癫痫性脑病，短暂性舞蹈性运动和失眠
3. Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures [J] . Saitoh Makiko, Ishii Atsushi, Ihara Yukiko, Epilepsy research . 2015 ,第Null期

机译：钠通道SCN1A和SCN2A的错义突变使儿童容易患有高热惊厥性脑病
4. An Autopsy Case of Suspected Malignant Syndrome Years after Infantile Encephalopathy [C] . R. Miyata, H. Kiguchi, N. Tanuma, Korean Child Neurology Society Congress . 2009

机译：婴儿脑病后疑似恶性综合征年的尸检病例
5. Use of the boundary element method in electrostatic modeling of the interaction between two blockers in sodium ion channels. [D] . Britvina, Tatiana. 2002

机译：边界元方法在钠离子通道中两个阻滞剂之间相互作用的静电建模中的应用。
6. Biallelic SCN2A Gene Mutation Causing Early Infantile Epileptic Encephalopathy: Case Report and Review [O] . Shahad AlSaif, Muhammad Umair, Majid Alfadhel 2019

机译：导致早期婴儿癫痫性脑病的双等位基因SCN2A基因突变：病例报告和审查。
7. Infantile epileptic encephalopathy, transient choreoathetotic movements, and hypersomnia due to a De Novo missense mutation in the SCN2A gene [O] . Hackenberg, Annette, Baumer, Alessandra, Sticht, Heinrich, 2014

机译：SCN2A基因的De Novo错义突变导致小儿癫痫性脑病，短暂性舞蹈性运动和失眠

Efficacy of sodium channel blockers in SCN2A early infantile epileptic encephalopathy

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