Incomplete penetrance and variable phenotypes of a novel NPRL2 frameshift variant: from familial focal epilepsy with variable foci 2 to neurodevelopmental disorders.

IF 2.2 3区医学 Q3 CLINICAL NEUROLOGY

BMC Neurology Pub Date : 2025-08-13 DOI:10.1186/s12883-025-04339-6

Hui Zhu, Qiyan Wang, Wenxin Deng, Shuyao Zhu, Lan Zeng, Ai Chen, Ying Pang, Fu Xiong

引用次数: 0

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一种新型NPRL2移码变异的不完全外显和可变表型：从具有可变病灶2的家族性局灶性癫痫到神经发育障碍

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

BMC Neurology 医学-临床神经学

CiteScore

4.20

自引率

0.00%

发文量

428

审稿时长

3-8 weeks

期刊介绍： BMC Neurology is an open access, peer-reviewed journal that considers articles on all aspects of the prevention, diagnosis and management of neurological disorders, as well as related molecular genetics, pathophysiology, and epidemiology.