X-Linked Familial Focal Epilepsy Associated With Xp22.31 Deletion.
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric neurology"
DOI: 10.1016/j.pediatrneurol.2020.02.008
Abstract: BACKGROUND The genetic basis for familial focal epilepsy is poorly understood, with most of the known genetic causes occurring via autosomal dominant inheritance. X-linked familial focal epilepsy has not been previously reported. METHODS We reviewed… read more here.
Keywords: epilepsy; linked familial; familial focal; focal epilepsy ... See more keywords
A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
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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
Phenotypic analysis of 303 multiplex families with common epilepsies
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DOI: 10.1093/brain/awx129
Abstract: Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized… read more here.
Keywords: epilepsy; common epilepsies; multiplex families; familial focal ... See more keywords
mTOR pathway in familial focal epilepsies
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DOI: 10.18632/oncotarget.14234
Abstract: An increasingly recognized role of genes encoding components of the mammalian Target Of Rapamycin (mTOR) signal transduction pathway has recently emerged among familial focal epilepsies. Loss-of-function mutations in the Dishevelled, Egl-10 and Pleckstrin Domain Containing… read more here.
Keywords: familial focal; pathology; mtorc1; brain ... See more keywords
Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations
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DOI: 10.3389/fgene.2020.533373
Abstract: Introduction Pathogenic variants in different genes have been described as involved in the development of familial focal segmental glomerulosclerosis (FSGS). A more precise genotype–phenotype correlation would be helpful to better characterize the clinical and laboratorial… read more here.
Keywords: focal segmental; late onset; familial focal; segmental glomerulosclerosis ... See more keywords
Phenotypic and Genotypic Characterization of DEPDC5-Related Familial Focal Epilepsy: Case Series and Literature Review
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DOI: 10.3389/fneur.2021.641019
Abstract: Mutations in the disheveled, Egl-10 and domain-containing protein 5 (DEPDC5) recently have been identified as a common cause of focal epilepsy syndromes. The association between phenotype and genotype of DEPDC5 mutation has not been adequately… read more here.
Keywords: epilepsy; mutation; depdc5 related; familial focal ... See more keywords