Cargando…
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...
Autores principales: | Sun, Yulin, Wan, Lin, Yan, Huimin, Li, Zhichao, Yang, Guang |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2021
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8667312/ https://www.ncbi.nlm.nih.gov/pubmed/34912289 http://dx.doi.org/10.3389/fneur.2021.780799 |
Ejemplares similares
-
Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy
por: Zhang, Hongwei, et al.
Publicado: (2023) -
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
por: Zhang, Xuan, et al.
Publicado: (2021) -
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review
por: Dainelli, Alice, et al.
Publicado: (2023) -
PCDH19-related epilepsy in mosaic males: The phenotypic implication of genotype and variant allele frequency
por: Chen, Yi, et al.
Publicado: (2022) -
Clinical phenotype and genotype of children with GABA(A) receptor α1 subunit gene-related epilepsy
por: Zhang, Linlin, et al.
Publicado: (2022)