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A splicing variation in NPRL2 causing familial focal epilepsy with variable foci: additional cases and literature review.
Zhang J, Shen Y, Yang Z, Yang F, Li Y, Yu B, Chen W, Gan J. Zhang J, et al. J Hum Genet. 2022 Feb;67(2):79-85. doi: 10.1038/s10038-021-00969-z. Epub 2021 Aug 11. J Hum Genet. 2022. PMID: 34376795 Free PMC article. Review.
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 reported to correlate with familial focal …
NPRL2 (nitrogen permease regulator like 2) is a component of the GATOR1(GAP activity towards rags complex 1) proteins, which is an inhibitor …
Surgery for epilepsy.
Spencer DD, Spencer SS. Spencer DD, et al. Neurol Clin. 1985 May;3(2):313-30. Neurol Clin. 1985. PMID: 3927130 Review.
Intensive investigation including EEG and audiovisual monitoring are utilized to evaluate the medically refractory epileptic. In some instances, specialized recordings from epidural, subdural or intracerebral locations are needed to try to pinpoint onset of focal se …
Intensive investigation including EEG and audiovisual monitoring are utilized to evaluate the medically refractory epileptic. In some …
Magnetoencephalogram-assisted diagnosis of familial focal epilepsy with variable foci in a Chinese family with a novel DEPDC5 mutation.
Li M, Huang Z, Zhang X, Duan Y, Jia Y, Ye J, Wang Y. Li M, et al. Epileptic Disord. 2019 Jun 1;21(3):289-294. doi: 10.1684/epd.2019.1066. Epileptic Disord. 2019. PMID: 31225799 Review.
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant disorder characterized by focal seizures arising from different brain lobes in different family members. Currently, the diagnosis of this syndrome mainly depends …
Familial focal epilepsy with variable foci (FFEVF) is an autosomal dominant disorder characterized by …
Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.
Dainelli A, Iacomino M, Rossato S, Bugin S, Traverso M, Severino M, Gustincich S, Capra V, Di Duca M, Zara F, Scala M, Striano P. Dainelli A, et al. Epilepsia Open. 2023 Dec;8(4):1314-1330. doi: 10.1002/epi4.12798. Epub 2023 Sep 1. Epilepsia Open. 2023. PMID: 37491868 Free PMC article. Review.
Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literature. METHODS: Through exome sequencing (ES), we investigated a 12-year-old girl with recurrent focal motor seizures during sleep, sugge …
Here, we delineated the genotype-phenotype spectrum of NRE, reporting an illustrative familial case and reviewing pertinent literatur …
Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.
Yang D, Wang J, Qin Z, Feng J, Mao C, Chen Y, Huang X, Ruan Y. Yang D, et al. Epilepsia Open. 2024 Feb;9(1):33-40. doi: 10.1002/epi4.12856. Epub 2023 Nov 28. Epilepsia Open. 2024. PMID: 37902097 Free PMC article. Review.
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 …
Nitrogen permease regulator-like 3 (NPRL3) has been reported to play a role in seizure onset. The principal manifestation of NPRL3-re …
[Autosomal dominant nocturnal frontal lobe epilepsy: the syndrome].
Picard F, Chauvel P. Picard F, et al. Rev Neurol (Paris). 1999 Jul;155(6-7):445-9. Rev Neurol (Paris). 1999. PMID: 10472656 Review. French.
The identification of the autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in 1994 was rapidly followed by that of other familial forms of non lesional partial epilepsies (familial temporal lobe epilepsy, autosomal dominant partial epilep …
The identification of the autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in 1994 was rapidly followed by that of other …