BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 37099548)

  • 21. Everolimus precision therapy for the GATOR1-related epilepsies: A case series.
    Moloney PB; Kearney H; Benson KA; Costello DJ; Cavalleri GL; Gorman KM; Lynch BJ; Delanty N
    Eur J Neurol; 2023 Oct; 30(10):3341-3346. PubMed ID: 37422919
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.
    Korenke GC; Eggert M; Thiele H; Nürnberg P; Sander T; Steinlein OK
    Epilepsia; 2016 Mar; 57(3):e60-3. PubMed ID: 26786403
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Dorsal telencephalon-specific Nprl2- and Nprl3-knockout mice: novel mouse models for GATORopathy.
    Ishida S; Zhao D; Sawada Y; Hiraoka Y; Mashimo T; Tanaka K
    Hum Mol Genet; 2022 May; 31(9):1519-1530. PubMed ID: 34965576
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A recurrent mutation in DEPDC5 predisposes to focal epilepsies in the French-Canadian population.
    Martin C; Meloche C; Rioux MF; Nguyen DK; Carmant L; Andermann E; Gravel M; Cossette P
    Clin Genet; 2014 Dec; 86(6):570-4. PubMed ID: 24283814
    [TBL] [Abstract][Full Text] [Related]  

  • 25. DEPDC5-related epilepsy: A comprehensive review.
    Samanta D
    Epilepsy Behav; 2022 May; 130():108678. PubMed ID: 35429726
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Clinical phenotypic and genotypic characterization of
    Zhang H; Deng J; Wang X; Chen C; Chen S; Dai L; Fang F
    Front Neurol; 2023; 14():1113747. PubMed ID: 36937533
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.
    Baulac S
    Prog Brain Res; 2014; 213():123-39. PubMed ID: 25194487
    [TBL] [Abstract][Full Text] [Related]  

  • 28. The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy.
    Cherian C; Appendino JP; Ashtiani S; Federico P; Molnar CP; Kerr M; Khan A; Au PYB; Klein KM
    J Neurol; 2022 Apr; 269(4):2162-2171. PubMed ID: 34537872
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Mutations in DEPDC5 cause familial focal epilepsy with variable foci.
    Dibbens LM; de Vries B; Donatello S; Heron SE; Hodgson BL; Chintawar S; Crompton DE; Hughes JN; Bellows ST; Klein KM; Callenbach PM; Corbett MA; Gardner AE; Kivity S; Iona X; Regan BM; Weller CM; Crimmins D; O'Brien TJ; Guerrero-López R; Mulley JC; Dubeau F; Licchetta L; Bisulli F; Cossette P; Thomas PQ; Gecz J; Serratosa J; Brouwer OF; Andermann F; Andermann E; van den Maagdenberg AM; Pandolfo M; Berkovic SF; Scheffer IE
    Nat Genet; 2013 May; 45(5):546-51. PubMed ID: 23542697
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Clinical Course May Be Independent from Neuroimaging in DEPDC-5-Related Epilepsy.
    Bartolini E; Della Vecchia S; Biagioni T; Montanaro D; Ferrari AR
    Neuropediatrics; 2023 Oct; 54(5):347-350. PubMed ID: 37003255
    [No Abstract]   [Full Text] [Related]  

  • 31. Gap Activity TOward Rags 1 variants in Chinese people with sporadic drug-resistant focal epilepsy.
    Xiong W; Tang L; Lu L; Zhang L; Xiao Y; Zhou D
    Acta Neurol Scand; 2019 Mar; 139(3):247-253. PubMed ID: 30427063
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report.
    Chandrasekar I; Tourney A; Loo K; Carmichael J; James K; Ellsworth KA; Dimmock D; Joseph M
    Am J Med Genet A; 2021 Jul; 185(7):2126-2130. PubMed ID: 33749980
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Neurophysiological assessment of cortical activity in DEPDC5- and NPRL3-related epileptic mTORopathies.
    Mabika M; Agbogba K; Côté S; Lippé S; Riou É; Cieuta C; Lepage JF
    Orphanet J Rare Dis; 2023 Jan; 18(1):11. PubMed ID: 36639812
    [TBL] [Abstract][Full Text] [Related]  

  • 34. GATORopathies: The role of amino acid regulatory gene mutations in epilepsy and cortical malformations.
    Iffland PH; Carson V; Bordey A; Crino PB
    Epilepsia; 2019 Nov; 60(11):2163-2173. PubMed ID: 31625153
    [TBL] [Abstract][Full Text] [Related]  

  • 35. [Familial partial epilepsies].
    Kobayashi E; Cendes F; Sousa SC; Scotoni AE; Carvalho MI; Guerreiro MM; Guerreiro CA; Lopes-Cendes I
    Arq Neuropsiquiatr; 2000 Sep; 58(3B):862-8. PubMed ID: 11018823
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Idiopathic focal epilepsies: the "lost tribe".
    Pal DK; Ferrie C; Addis L; Akiyama T; Capovilla G; Caraballo R; de Saint-Martin A; Fejerman N; Guerrini R; Hamandi K; Helbig I; Ioannides AA; Kobayashi K; Lal D; Lesca G; Muhle H; Neubauer BA; Pisano T; Rudolf G; Seegmuller C; Shibata T; Smith A; Striano P; Strug LJ; Szepetowski P; Valeta T; Yoshinaga H; Koutroumanidis M
    Epileptic Disord; 2016 Sep; 18(3):252-88. PubMed ID: 27435520
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Genotype and phenotype of children with DEPDC5 gene variants related epilepsy].
    Liu WW; Yang Y; Niu XY; Cheng MM; Wang S; Wu Y; Yang ZX; Liu XY; Cai LX; Jiang YW; Zhang YH
    Zhonghua Er Ke Za Zhi; 2021 Oct; 59(10):859-864. PubMed ID: 34587683
    [No Abstract]   [Full Text] [Related]  

  • 38. Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
    Ververi A; Zagaglia S; Menzies L; Baptista J; Caswell R; Baulac S; Ellard S; Lynch S; ; Jacques TS; Chawla MS; Heier M; Kulseth MA; Mero IL; Våtevik AK; Kraoua I; Ben Rhouma H; Ben Younes T; Miladi Z; Ben Youssef Turki I; Jones WD; Clement E; Eltze C; Mankad K; Merve A; Parker J; Hoskins B; Pressler R; Sudhakar S; DeVile C; Homfray T; Kaliakatsos M; ; Robinson R; Keim SMB; Habibi I; Reymond A; Sisodiya SM; Hurst JA
    Hum Mol Genet; 2023 Jan; 32(4):580-594. PubMed ID: 36067010
    [TBL] [Abstract][Full Text] [Related]  

  • 39. An analysis of clinical seizure patterns and their localizing value in frontal and temporal lobe epilepsies.
    Manford M; Fish DR; Shorvon SD
    Brain; 1996 Feb; 119 ( Pt 1)():17-40. PubMed ID: 8624679
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Differences in SCN1A intronic variants result in diverse aberrant splicing patterns and are related to the phenotypes of epilepsy with febrile seizures.
    Zhou X; Xu H; Cai X; Tang B; Liu X; Shi Y; Zheng J; Liao W; Yu L
    Epilepsy Res; 2021 Oct; 176():106711. PubMed ID: 34293681
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.