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Article

The clinical features of familial focal epilepsy with variable foci and NPRL3 gene variant

26 Apr 2023

Abstract excerpt

OBJECTIVE: Familial focal epilepsy with variable foci (FFEVF) is a rare type of focal epilepsy syndrome; it is associated with NPRL3 variant. However, relevant reports are rare in China. We aimed to analyze the clinical features of Chinese patients with FFEVF to understand further the differences between various NPRL3 variants and explored the effect of NPRL3 variant on mRNA. METHODS: We ran a full workup on a...

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PMID: 37099548
DOI: 10.1371/journal.pone.0284924

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