PDF(Pubmed)
Abstract：
Nitrogen 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 existence of 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 SUMMARY: This 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.
摘要：
据报道，氮通透酶调节因子样3（NPRL3）在癫痫发作中起作用。NPRL3相关癫痫的主要表现是一系列癫痫相关综合征，如家族性局灶性癫痫与可变病灶（FFEVF），睡眠相关的运动过度癫痫（SHE），颞叶癫痫（TLE）。NPRL3突变的表型和基因型之间的关联仍未充分描述。本研究旨在探讨NPRL3相关癫痫的表型和基因型谱。我们在两个无关的癫痫病例中报道了两个新的NPRL3变异，包括胡说八道(c.1174C>T，p.Gln392*)和一个错觉变体(c.1322C>T，p.Thr441Met)。在对文献进行回顾之后，共评估了116例NPRL3相关癫痫,大多是胡说八道和移码突变。我们的发现表明，具有各种NPRL3变体的患者表现出可变的临床表现。此外,有家族史的癫痫患者是否存在NPRL3突变可能值得考虑.这项研究通过扩展NPRL3相关癫痫的表型和基因型谱为治疗和预后提供了有用的信息。
