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A case report of hemimegalencephaly with super-refractory status epilepticus and brain atrophy associated with NPRL3 gene mutation.

作者信息

Vasquez Alejandra, Miller Kai J, Youssef Paul E, Selcen Duygu, Patterson Marc C, Starnes Keith

机构信息

Department of Neurology, Mayo Clinic, Rochester, MN, United States.

Department of Neurosurgery, Mayo Clinic, Rochester, MN, United States.

出版信息

Seizure. 2024 Mar;116:156-158. doi: 10.1016/j.seizure.2023.02.010. Epub 2023 Feb 11.

DOI:10.1016/j.seizure.2023.02.010
PMID:36842889
Abstract
摘要

相似文献

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引用本文的文献

1
Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.NPRL3相关癫痫的表型和基因型特征：两例病例报告及文献综述
Epilepsia Open. 2024 Feb;9(1):33-40. doi: 10.1002/epi4.12856. Epub 2023 Nov 28.