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De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

机译：De Novo SCN8A和遗传性稀有CACNA1H变体与严重发育和癫痫患者相关

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The online version contains supplementary material available at 10.1186/s13041-021-00838-y.

机译：在线版本包含10.1186 / s13041-021-00838-y提供的补充材料。

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期刊名称 Molecular Brain
作者
Robin N. Stringer; Bohumila Jurkovicova-Tarabova; Ivana A. Souza; Judy Ibrahim; Tomas Vacik; Waseem Mahmoud Fathalla; Jozef Hertecant; Gerald W. Zamponi; Lubica Lacinova; Norbert Weiss;
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年(卷),期 2021(-1),-1
年度 2021
页码 -1
总页数 5
原文格式 PDF
正文语种
中图分类分子生物学;
关键词

机译：离子通道;通道病;钙通道;

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专利

1. Biallelic inherited SCN8A SCN8A variants, a rare cause of SCN8A SCN8A ‐related developmental and epileptic encephalopathy [J] . Wengert Eric R., Tronhjem Cathrine E., Wagnon Jacy L., Epilepsia: Journal of the International League against Epilepsy . 2019,第11期

机译：双层遗传继承了SCN8A SCN8A变体，罕见的SCN8A SCN8A -Reled发育和癫痫发育脑病
2. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy [J] . Berkovic Samuel F., Dixon-Salazar Tracy, Goldstein David B., Genetics in medicine . 2018,第2期

机译：SCN8A的替代外显子5中的德诺伊型变异导致癫痫脑病
3. Both gain‐of‐function and loss‐of‐function de novo CACNA 1A de novo CACNA CACNA 1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox‐Gastaut syndrome [J] . Jiang Xiao, Raju Praveen K., DAvanzo Nazzareno, Epilepsia: Journal of the International League against Epilepsy . 2019,第9期

机译：既获得函数和函数丧失缺陷NovoCaCNA 1A de Novo Cacna CaCNA 1A突变导致Lennox-Gastaut综合征的光谱中的严重发育癫痫脑病
4. Determination of the Orientation Relation from Variants Inherited by Phase Transformation [C] . HUMBERT Michel, BLAINEAU Pierre, GERMAIN Lionel, International conference on textures of materials;ICOTOM 16 . 2012

机译：从相变继承的变量确定方向关系
5. Evaluation of a Precision Medicine Approach for hnRNP U-Related Developmental Epileptic Encephalopathy Using a Mouse Model of Disease [D] . Dugger, Sarah Anne. 2020

机译：使用小鼠疾病模型评估HNRNP U相关发育癫痫患者的精确药物方法
6. De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy [O] . -1

机译：SCN8A的第5外显子中的从头变异导致癫痫性脑病
7. Neonatal tremor episodes and hyperekplexia-like presentation at onset in a child with SCN8A developmental and epileptic encephalopathy [O] . Linda Pons, Gaëtan Lesca, Damien Sanlaville, 2018

机译：新生儿震颤在SCN8A发育和癫痫发作和癫痫患者中的雌性发作和Shoperkplexia的介绍

De novo SCN8A and inherited rare CACNA1H variants associated with severe developmental and epileptic encephalopathy

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