一名患有难治性癫痫和SCN1B基因变异的个体经苯妥英治疗后癫痫发作显著改善。 - Suppr

Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.

作者信息

Dang Louis T, Quinonez Shane C, Becka Bridget R, Isom Lori L, Joshi Sucheta M

机构信息

Division of Pediatric Neurology, Department of Pediatrics, Michigan Medicine, Ann Arbor, Michigan.

Division of Pediatric Genetics, Metabolism and Genomic Medicine, Department of Pediatrics, Michigan Medicine, Ann Arbor, Michigan.

出版信息

Pediatr Neurol. 2020 Jul;108:121-122. doi: 10.1016/j.pediatrneurol.2020.03.012. Epub 2020 Mar 19.

DOI:10.1016/j.pediatrneurol.2020.03.012

PMID:32303391

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8649903/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e016/8649903/d98dc5d41564/nihms-1758857-f0001.jpg

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Am J Med Genet A. 2019 Nov;179(11):2190-2195. doi: 10.1002/ajmg.a.61344. Epub 2019 Aug 29.

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Dramatic Improvement in Seizures With Phenytoin Treatment in an Individual With Refractory Epilepsy and a SCN1B Variant.

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