Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review

The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), a...

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Autores principales: Yulin Sun, Lin Wan, Huimin Yan, Zhichao Li, Guang Yang
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Publicado: Frontiers Media S.A. 2021
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spelling oai:doaj.org-article:08d1e17581d54d1e8a4bd5b5281d20422021-12-01T13:36:22ZPhenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review1664-229510.3389/fneur.2021.780799https://doaj.org/article/08d1e17581d54d1e8a4bd5b5281d20422021-11-01T00:00:00Zhttps://www.frontiersin.org/articles/10.3389/fneur.2021.780799/fullhttps://doaj.org/toc/1664-2295The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS). The association between phenotype and genotype of NPRL2 variants has not been widely explored. This study aimed to explore the phenotype and genotype spectrum of NPRL2-related epilepsy. Here, we presented two clinical cases with NPRL2-related epilepsy, and discussed the characteristics, diagnosis, and treatment processes in the context of existing literature. Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary. These findings indicate that the possibility of NPRL2 gene mutations in focal epilepsy should be considered for patients with family history, and that patients carrying different NPRL2 variants have different clinical manifestations. Our study expanded the genotype spectrum of NPRL2 and suggested that the type of NPRL2 variants might provide important information for the prognosis evaluation.Yulin SunYulin SunLin WanLin WanHuimin YanHuimin YanZhichao LiZhichao LiGuang YangGuang YangGuang YangFrontiers Media S.A.articlefocal epilepsygenotypephenotypeNPRL2case reportNeurology. Diseases of the nervous systemRC346-429ENFrontiers in Neurology, Vol 12 (2021)
institution DOAJ
collection DOAJ
language EN
topic focal epilepsy
genotype
phenotype
NPRL2
case report
Neurology. Diseases of the nervous system
RC346-429
spellingShingle focal epilepsy
genotype
phenotype
NPRL2
case report
Neurology. Diseases of the nervous system
RC346-429
Yulin Sun
Yulin Sun
Lin Wan
Lin Wan
Huimin Yan
Huimin Yan
Zhichao Li
Zhichao Li
Guang Yang
Guang Yang
Guang Yang
Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
description The phenotype of nitrogen permease regulator-like 2 (NPRL2) gene-related epilepsy clinically manifests as a range of epilepsy syndromes, including familial focal epilepsy with variable foci (FFEVF), sleep-related hypermotor epilepsy (SHE), temporal lobe epilepsy (TLE), frontal lobe epilepsy (FLE), and infantile spasms (IS). The association between phenotype and genotype of NPRL2 variants has not been widely explored. This study aimed to explore the phenotype and genotype spectrum of NPRL2-related epilepsy. Here, we presented two clinical cases with NPRL2-related epilepsy, and discussed the characteristics, diagnosis, and treatment processes in the context of existing literature. Two novel NPRL2 likely pathogenic variants were identified by next-generation sequencing, including one splicing mutation (c.933-1G>A), and one frameshift mutation (c.257delG). The results of literature review showed that there were a total of 20 patients with NPRL2-related epilepsy whose mutations were mostly missense and hereditary. These findings indicate that the possibility of NPRL2 gene mutations in focal epilepsy should be considered for patients with family history, and that patients carrying different NPRL2 variants have different clinical manifestations. Our study expanded the genotype spectrum of NPRL2 and suggested that the type of NPRL2 variants might provide important information for the prognosis evaluation.
format article
author Yulin Sun
Yulin Sun
Lin Wan
Lin Wan
Huimin Yan
Huimin Yan
Zhichao Li
Zhichao Li
Guang Yang
Guang Yang
Guang Yang
author_facet Yulin Sun
Yulin Sun
Lin Wan
Lin Wan
Huimin Yan
Huimin Yan
Zhichao Li
Zhichao Li
Guang Yang
Guang Yang
Guang Yang
author_sort Yulin Sun
title Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
title_short Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
title_full Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
title_fullStr Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
title_full_unstemmed Phenotypic and Genotypic Characterization of NPRL2-Related Epilepsy: Two Case Reports and Literature Review
title_sort phenotypic and genotypic characterization of nprl2-related epilepsy: two case reports and literature review
publisher Frontiers Media S.A.
publishDate 2021
url https://doaj.org/article/08d1e17581d54d1e8a4bd5b5281d2042
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