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A Self-Limited Early Neonatal-Infantile Benign Epilepsy with ATP1A2 Variant.

作者信息

Joon Preeti, Chaudhary Vinod, Rajilal Tanuja

机构信息

Department of Pediatrics, Radiant Children Hospital, Jodhpur, 342008, Rajasthan, India.

Department of Pediatrics, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

出版信息

Indian J Pediatr. 2025 Sep 2. doi: 10.1007/s12098-025-05755-9.

DOI:10.1007/s12098-025-05755-9
PMID:40892280
Abstract
摘要

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本文引用的文献

1
ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.ATP1A2 相关性癫痫性脑病和运动障碍:三例新患者的临床特征。
Epileptic Disord. 2024 Jun;26(3):332-340. doi: 10.1002/epd2.20220. Epub 2024 Mar 21.
2
Presenting Patterns of Genetically Determined Developmental Encephalopathies With Epilepsy and Movement Disorders: A Single Tertiary Center Retrospective Cohort Study.具有癫痫和运动障碍的遗传性发育性脑病的表现模式:一项单三级中心回顾性队列研究。
Front Neurol. 2022 Jun 20;13:855134. doi: 10.3389/fneur.2022.855134. eCollection 2022.
3
Functional correlation of ATP1A2 mutations with phenotypic spectrum: from pure hemiplegic migraine to its variant forms.
ATP1A2 突变与表型谱的功能相关性:从单纯偏瘫性偏头痛到其变异型。
J Headache Pain. 2021 Aug 12;22(1):92. doi: 10.1186/s10194-021-01309-4.
4
Epilepsy as part of the phenotype associated with ATP1A2 mutations.癫痫作为与ATP1A2突变相关的表型的一部分。
Epilepsia. 2008 Mar;49(3):500-8. doi: 10.1111/j.1528-1167.2007.01415.x. Epub 2007 Nov 19.