Affiliation:
1. Ruikang Clinical Medical College Guangxi University of Chinese Medicine Nanning China
2. Department of Pediatric Neurology, Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Guangxi Clinical Research Center for Pediatric Diseases Nanning China
3. Guangxi Key Laboratory of Precision Medicine for Genetic Diseases Maternal and Child Health Hospital of Guangxi Zhuang Autonomous Region Nanning China
4. Genetic and Metabolic Central Laboratory Guangxi Birth Defects Research and Prevention Institute Nanning China
Abstract
AbstractNitrogen permease regulator‐like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3‐related epilepsy is a range of epilepsy‐associated syndromes, such as familial focal epilepsy with variable foci (FFEVF), sleep‐related hypermotor epilepsy (SHE), and temporal lobe epilepsy (TLE). The association between phenotype and genotype of NPRL3 mutations remains inadequately described. This study aimed to explore the phenotypic and genotypic spectra of NPRL3‐related epilepsy. We reported two novel NPRL3 variants in two unrelated epilepsy cases, including a nonsense (c.1174C > T, p.Gln392*) and a missense variant (c.1322C > T, p.Thr441Met). Following a review of the literature, a total of 116 cases of NPRL3‐related epilepsy were assessed, mostly with nonsense and frameshift mutations. Our findings suggest that patients harboring various NPRL3 variants exhibit variable clinical manifestations. In addition, it may be worthwhile to consider the NPRL3 mutations in epilepsy patients with a family history. This study provides useful information for the treatment and prognosis by expanding the phenotypic and genotypic spectrum of NPRL3‐related epilepsy.Plain Language SummaryThis study expands the phenotypic and genotypic spectra of NPRL3‐related epilepsy by reporting two cases with different novel variants. Following a review of the literature, it was observed that patients harboring various NPRL3 variants exhibited a variability of clinical manifestations. Also, patients carrying nonsense mutations are frequently prone to drug resistance and other severe comorbidities such as developmental delay, but more cases need to be collected to confirm these findings.
Subject
Neurology (clinical),Neurology