Clinical phenotype and genotype of NPRL2-related epilepsy: Four cases reports and literature review
Seizure: European Journal of Epilepsy(2023)
摘要
•Focal epielpsy involving central region should be distinguished with SeLECTS.•Focal epilepsy was the most common presentation of NPRL2-related epilepsy.•Two-thirds of the variants were loss of function (LoF) in NPRL2 gene.•Surgery was a potential treatment for the patients with definite epileptic foci.•Our study provided potential reference value for the clinical diagnosis.
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关键词
Focal epilepsy,NPRL2,Phenotype,Genotype
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