BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

330 related articles for article (PubMed ID: 32723703)

  • 1. Biallelic SZT2 variants in a child with developmental and epileptic encephalopathy.
    Tanaka R; Takahashi S; Kuroda M; Takeguchi R; Suzuki N; Makita Y; Narumi-Kishimoto Y; Kaname T
    Epileptic Disord; 2020 Aug; 22(4):501-505. PubMed ID: 32723703
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Biallelic mutations in SZT2 cause a discernible clinical entity with epilepsy, developmental delay, macrocephaly and a dysmorphic corpus callosum.
    Nakamura Y; Togawa Y; Okuno Y; Muramatsu H; Nakabayashi K; Kuroki Y; Ieda D; Hori I; Negishi Y; Togawa T; Hattori A; Kojima S; Saitoh S
    Brain Dev; 2018 Feb; 40(2):134-139. PubMed ID: 28893434
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Developmental and epileptic encephalopathy due to SZT2 genomic variants: Emerging features of a syndromic condition.
    Trivisano M; Rivera M; Terracciano A; Ciolfi A; Napolitano A; Pepi C; Calabrese C; Digilio MC; Tartaglia M; Curatolo P; Vigevano F; Specchio N
    Epilepsy Behav; 2020 Jul; 108():107097. PubMed ID: 32402703
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Novel biallelic SZT2 mutations in 3 cases of early-onset epileptic encephalopathy.
    Tsuchida N; Nakashima M; Miyauchi A; Yoshitomi S; Kimizu T; Ganesan V; Teik KW; Ch'ng GS; Kato M; Mizuguchi T; Takata A; Miyatake S; Miyake N; Osaka H; Yamagata T; Nakajima H; Saitsu H; Matsumoto N
    Clin Genet; 2018 Feb; 93(2):266-274. PubMed ID: 28556953
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel SZT2 mutations in three patients with developmental and epileptic encephalopathies.
    Sun X; Zhong X; Li T
    Mol Genet Genomic Med; 2019 Sep; 7(9):e926. PubMed ID: 31397114
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Neonatal developmental and epileptic encephalopathy due to autosomal recessive variants in SLC13A5 gene.
    Matricardi S; De Liso P; Freri E; Costa P; Castellotti B; Magri S; Gellera C; Granata T; Musante L; Lesca G; Oertel J; Craiu D; Hammer TB; Møller RS; Barisic N; Abou Jamra R; Polster T; Vigevano F; Marini C
    Epilepsia; 2020 Nov; 61(11):2474-2485. PubMed ID: 33063863
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical phenotype and genetic characteristics of SZT2 related diseases: A case report and literature review.
    Zhang X; Han Y; Yang L; Xu N; Zhu L; Qiu S; Li Y; Xu L; Yu X
    Seizure; 2024 Jan; 114():111-120. PubMed ID: 38134649
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Genetic analysis of developmental and epileptic encephalopathy caused by novel biallelic SZT2 gene mutations in three Chinese Han infants: a case series and literature review.
    Yang S; Yang LM; Liao HM; Fang HJ; Ning ZS; Liao CS; Wu LW
    Neurol Sci; 2022 Aug; 43(8):5039-5048. PubMed ID: 35352205
    [TBL] [Abstract][Full Text] [Related]  

  • 9. [Genotype and phenotype of children with KCNA2 gene related developmental and epileptic encephalopathy].
    Gong P; Xue J; Jiao XR; Zhang YH; Yang ZX
    Zhonghua Er Ke Za Zhi; 2020 Jan; 58(1):35-40. PubMed ID: 31905474
    [No Abstract]   [Full Text] [Related]  

  • 10. A novel homozygous mutation in SZT2 gene in Saudi family with developmental delay, macrocephaly and epilepsy.
    Naseer MI; Alwasiyah MK; Abdulkareem AA; Bajammal RA; Trujillo C; Abu-Elmagd M; Jafri MA; Chaudhary AG; Al-Qahtani MH
    Genes Genomics; 2018 Nov; 40(11):1149-1155. PubMed ID: 30315519
    [TBL] [Abstract][Full Text] [Related]  

  • 11. SZT2 mutation in a boy with intellectual disability, seizures and autistic features.
    Kariminejad A; Yazdan H; Rahimian E; Kalhor Z; Fattahi Z; Zonooz MF; Najmabadi H; Ashrafi M
    Eur J Med Genet; 2019 Sep; 62(9):103556. PubMed ID: 30359774
    [TBL] [Abstract][Full Text] [Related]  

  • 12.
    Luo S; Ye XG; Jin L; Li H; He YY; Guan BZ; Gao LD; Liang XY; Wang PY; Lu XG; Yan HJ; Li BM; Chen YJ; Liu ZG
    Front Mol Neurosci; 2023; 16():1162408. PubMed ID: 37213690
    [TBL] [Abstract][Full Text] [Related]  

  • 13. A novel possible familial cause of epilepsy of infancy with migrating focal seizures related to SZT2 gene variant.
    El Halabi T; Dirani M; Hotait M; Nasreddine W; Beydoun A
    Epilepsia Open; 2021 Mar; 6(1):73-78. PubMed ID: 33681650
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
    Domingues FS; König E; Schwienbacher C; Volpato CB; Picard A; Cantaloni C; Mascalzoni D; Lackner P; Heimbach A; Hoffmann P; Stanzial F; Hicks AA; Parmeggiani L; Benedicenti F; Pellegrin S; Casara G; Pramstaller PP
    Seizure; 2019 Mar; 66():81-85. PubMed ID: 30818181
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Early-life epileptic encephalopathy secondary to SZT2 pathogenic recessive variants.
    Venkatesan C; Angle B; Millichap JJ
    Epileptic Disord; 2016 Jun; 18(2):195-200. PubMed ID: 27248490
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Clinical characteristics and gene analysis of GRIN2B gene related neurological developmental disorders in children].
    Tian XJ; Wang XH; Ding CH; Fang F; Dai LF; Deng J; Wang HM
    Zhonghua Er Ke Za Zhi; 2022 Mar; 60(3):232-236. PubMed ID: 35240744
    [No Abstract]   [Full Text] [Related]  

  • 17. The molecular and phenotypic spectrum of IQSEC2-related epilepsy.
    Zerem A; Haginoya K; Lev D; Blumkin L; Kivity S; Linder I; Shoubridge C; Palmer EE; Field M; Boyle J; Chitayat D; Gaillard WD; Kossoff EH; Willems M; Geneviève D; Tran-Mau-Them F; Epstein O; Heyman E; Dugan S; Masurel-Paulet A; Piton A; Kleefstra T; Pfundt R; Sato R; Tzschach A; Matsumoto N; Saitsu H; Leshinsky-Silver E; Lerman-Sagie T
    Epilepsia; 2016 Nov; 57(11):1858-1869. PubMed ID: 27665735
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Defining the phenotype of FHF1 developmental and epileptic encephalopathy.
    Trivisano M; Ferretti A; Bebin E; Huh L; Lesca G; Siekierska A; Takeguchi R; Carneiro M; De Palma L; Guella I; Haginoya K; Shi RM; Kikuchi A; Kobayashi T; Jung J; Lagae L; Milh M; Mathieu ML; Minassian BA; Novelli A; Pietrafusa N; Takeshita E; Tartaglia M; Terracciano A; Thompson ML; Cooper GM; Vigevano F; Villard L; Villeneuve N; Buyse GM; Demos M; Scheffer IE; Specchio N
    Epilepsia; 2020 Jul; 61(7):e71-e78. PubMed ID: 32645220
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Biallelic inherited SCN8A variants, a rare cause of SCN8A-related developmental and epileptic encephalopathy.
    Wengert ER; Tronhjem CE; Wagnon JL; Johannesen KM; Petit H; Krey I; Saga AU; Panchal PS; Strohm SM; Lange J; Kamphausen SB; Rubboli G; Lemke JR; Gardella E; Patel MK; Meisler MH; Møller RS
    Epilepsia; 2019 Nov; 60(11):2277-2285. PubMed ID: 31625145
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly.
    Iodice A; Spagnoli C; Frattini D; Salerno GG; Rizzi S; Fusco C
    Seizure; 2019 Jul; 69():296-297. PubMed ID: 31146092
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 17.