A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Sign Up to like & getrecommendations! Published in 2021 at "Journal of human genetics"
DOI: 10.1038/s10038-021-00969-z
Abstract: NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor of the amino acid-sensing branch of the mTORC1 pathway. GATOR1 complex variations were… read more here.
Keywords: splicing variation; familial focal; focal epilepsy; variable foci ... See more keywords
A Novel Loss-of-Function Mutation in the NPRL3 Gene Identified in Chinese Familial Focal Epilepsy with Variable Foci
Sign Up to like & getrecommendations! Published in 2021 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2021.766354
Abstract: Familial focal epilepsy with variable foci is an autosomal dominant disorder characterized by partial epilepsy with variable foci. In this study, we report a six-generation with segregation of the mutation present in four generations Chinese… read more here.
Keywords: epilepsy variable; epilepsy; variable foci; mutation ... See more keywords