These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

171 related articles for article (PubMed ID: 35944423)

  • 1. Severe epilepsy phenotype with SCN1A missense variants located outside the sodium channel core region: Relationship between functional results and clinical phenotype.
    Fang Z; Xie L; Li X; Gui J; Yang X; Han Z; Luo H; Huang D; Chen H; Cheng L; Jiang L
    Seizure; 2022 Oct; 101():109-116. PubMed ID: 35944423
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The gain of function SCN1A disorder spectrum: novel epilepsy phenotypes and therapeutic implications.
    Brunklaus A; Brünger T; Feng T; Fons C; Lehikoinen A; Panagiotakaki E; Vintan MA; Symonds J; Andrew J; Arzimanoglou A; Delima S; Gallois J; Hanrahan D; Lesca G; MacLeod S; Marjanovic D; McTague A; Nuñez-Enamorado N; Perez-Palma E; Scott Perry M; Pysden K; Russ-Hall SJ; Scheffer IE; Sully K; Syrbe S; Vaher U; Velayutham M; Vogt J; Weiss S; Wirrell E; Zuberi SM; Lal D; Møller RS; Mantegazza M; Cestèle S
    Brain; 2022 Nov; 145(11):3816-3831. PubMed ID: 35696452
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Gain of function SCN1A disease-causing variants: Expanding the phenotypic spectrum and functional studies guiding the choice of effective antiseizure medication.
    Matricardi S; Cestèle S; Trivisano M; Kassabian B; Leroudier N; Vittorini R; Nosadini M; Cesaroni E; Siliquini S; Marinaccio C; Longaretti F; Podestà B; Operto FF; Luisi C; Sartori S; Boniver C; Specchio N; Vigevano F; Marini C; Mantegazza M
    Epilepsia; 2023 May; 64(5):1331-1347. PubMed ID: 36636894
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies.
    Gallagher D; Pérez-Palma E; Bruenger T; Ghanty I; Brilstra E; Ceulemans B; Chemaly N; de Lange I; Depienne C; Guerrini R; Mei D; Møller RS; Nabbout R; Regan BM; Schneider AL; Scheffer IE; Schoonjans AS; Symonds JD; Weckhuysen S; Zuberi SM; Lal D; Brunklaus A
    Epilepsia; 2024 Apr; 65(4):1046-1059. PubMed ID: 38410936
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the sodium channel genes SCN1A, SCN3A, and SCN9A in children with epilepsy with febrile seizures plus(EFS+).
    Ma H; Guo Y; Chen Z; Wang L; Tang Z; Zhang J; Miao Q; Zhai Q
    Seizure; 2021 May; 88():146-152. PubMed ID: 33895391
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Mosaicism of de novo pathogenic SCN1A variants in epilepsy is a frequent phenomenon that correlates with variable phenotypes.
    de Lange IM; Koudijs MJ; van 't Slot R; Gunning B; Sonsma ACM; van Gemert LJJM; Mulder F; Carbo EC; van Kempen MJA; Verbeek NE; Nijman IJ; Ernst RF; Savelberg SMC; Knoers NVAM; Brilstra EH; Koeleman BPC
    Epilepsia; 2018 Mar; 59(3):690-703. PubMed ID: 29460957
    [TBL] [Abstract][Full Text] [Related]  

  • 7. [Correlation between clinical phenotypes and genotypes among 46 children with SCN1A-related developmental epileptic encephalopathy].
    Peng B; Zhu H; Tian Y; Li X; Wang X; Gao Y; Zhang Y; Shen H; Chen W
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2024 Apr; 41(4):426-431. PubMed ID: 38565507
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Epilepsy phenotype associated with a chromosome 2q24.3 deletion involving SCN1A: Migrating partial seizures of infancy or atypical Dravet syndrome?
    Lim BC; Hwang H; Kim H; Chae JH; Choi J; Kim KJ; Hwang YS; Yum MS; Ko TS
    Epilepsy Res; 2015 Jan; 109():34-9. PubMed ID: 25524840
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
    Hammer MF; Ishii A; Johnstone L; Tchourbanov A; Lau B; Sprissler R; Hallmark B; Zhang M; Zhou J; Watkins J; Hirose S
    PLoS One; 2017; 12(7):e0180485. PubMed ID: 28686619
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome.
    Jiang T; Shen Y; Chen H; Yuan Z; Mao S; Gao F
    Medicine (Baltimore); 2018 Dec; 97(50):e13565. PubMed ID: 30558019
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SCN1A gain-of-function mutation causing an early onset epileptic encephalopathy.
    Clatot J; Parthasarathy S; Cohen S; McKee JL; Massey S; Somarowthu A; Goldberg EM; Helbig I
    Epilepsia; 2023 May; 64(5):1318-1330. PubMed ID: 36287100
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic-clonic seizures.
    Rhodes TH; Vanoye CG; Ohmori I; Ogiwara I; Yamakawa K; George AL
    J Physiol; 2005 Dec; 569(Pt 2):433-45. PubMed ID: 16210358
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Neonatal developmental and epileptic encephalopathy with movement disorders and arthrogryposis: A case report with a novel missense variant of SCN1A.
    Okubo Y; Shibuya M; Nakamura H; Kawashima A; Kodama K; Endo W; Inui T; Togashi N; Aihara Y; Shirota M; Funayama R; Niihori T; Fujita A; Nakayama K; Aoki Y; Matsumoto N; Kure S; Kikuchi A; Haginoya K
    Brain Dev; 2023 Oct; 45(9):505-511. PubMed ID: 37442734
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical implications of SCN1A missense and truncation variants in a large Japanese cohort with Dravet syndrome.
    Ishii A; Watkins JC; Chen D; Hirose S; Hammer MF
    Epilepsia; 2017 Feb; 58(2):282-290. PubMed ID: 28012175
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Nonfunctional SCN1A is common in severe myoclonic epilepsy of infancy.
    Ohmori I; Kahlig KM; Rhodes TH; Wang DW; George AL
    Epilepsia; 2006 Oct; 47(10):1636-42. PubMed ID: 17054685
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Phenotype and SCN1A gene mutation screening in 39 families with generalized epilepsy with febrile seizures plus].
    Xu XJ; Zhang YH; Sun HH; Liu XY; Wu HS; Wu XR
    Zhonghua Er Ke Za Zhi; 2012 Aug; 50(8):580-6. PubMed ID: 23158734
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Prediction of molecular phenotypes for novel SCN1A variants from a Turkish genetic epilepsy syndromes cohort and report of two new patients with recessive Dravet syndrome.
    Teralı K; Türkyılmaz A; Sağer SG; Çebi AH
    Clin Transl Sci; 2024 Jan; 17(1):e13679. PubMed ID: 37955180
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo homozygous variant of the SCN1A gene in a patient with severe Dravet syndrome complicated by acute encephalopathy.
    Van LTK; Hien HTD; Kieu HTT; Hieu NLT; Vinh LS; Hoa G; Hang DTT
    Neurogenetics; 2021 May; 22(2):133-136. PubMed ID: 33674996
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Whole exome sequencing and co-expression analysis identify an SCN1A variant that modifies pathogenicity in a family with genetic epilepsy and febrile seizures plus.
    Hammer MF; Pan Y; Cumbay M; Pendziwiat M; Afawi Z; Goldberg-Stern H; Johnstone L; Helbig I; Cummins TR
    Epilepsia; 2022 Aug; 63(8):1970-1980. PubMed ID: 35592948
    [TBL] [Abstract][Full Text] [Related]  

  • 20. The L1624Q Variant in
    Jones LB; Peters CH; Rosch RE; Owers M; Hughes E; Pal DK; Ruben PC
    Front Pharmacol; 2021; 12():788192. PubMed ID: 34925043
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.