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 *

172 related articles for article (PubMed ID: 27193218)

  • 1. Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
    Conroy J; Allen NM; Gorman K; O'Halloran E; Shahwan A; Lynch B; Lynch SA; Ennis S; King MD
    J Hum Genet; 2016 Aug; 61(8):761-4. PubMed ID: 27193218
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
    Pironti E; Salpietro V; Cucinotta F; Granata F; Mormina E; Efthymiou S; Scuderi C; Gagliano A; Houlden H; Di Rosa G
    J Neurogenet; 2018 Dec; 32(4):316-321. PubMed ID: 29989513
    [TBL] [Abstract][Full Text] [Related]  

  • 3. SLC1A4 mutations cause a novel disorder of intellectual disability, progressive microcephaly, spasticity and thin corpus callosum.
    Heimer G; Marek-Yagel D; Eyal E; Barel O; Oz Levi D; Hoffmann C; Ruzzo EK; Ganelin-Cohen E; Lancet D; Pras E; Rechavi G; Nissenkorn A; Anikster Y; Goldstein DB; Ben Zeev B
    Clin Genet; 2015 Oct; 88(4):327-35. PubMed ID: 26138499
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A Novel SLC1A4 Mutation (p.Y191*) Causes Spastic Tetraplegia, Thin Corpus Callosum, and Progressive Microcephaly (SPATCCM) With Seizure Disorder.
    Abdelrahman HA; Al-Shamsi A; John A; Ali BR; Al-Gazali L
    Child Neurol Open; 2019; 6():2329048X19880647. PubMed ID: 31763347
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Severe neurodevelopmental disorder with intractable seizures due to a novel SLC1A4 homozygous variant.
    Sedláčková L; Laššuthová P; Štěrbová K; Vlčková M; Kudr M; Buksakowska I; Staněk D; Seeman P
    Eur J Med Genet; 2021 Sep; 64(9):104263. PubMed ID: 34174466
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
    Sarigecili E; Bulut FD; Anlas O
    Clin Neurol Neurosurg; 2022 Jul; 218():107283. PubMed ID: 35605507
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Novel compound heterozygous variants (c.971delA/c.542C > T) in
    Mohamed FE; Ghattas MA; Almansoori TM; Tabouni M; Baydoun I; Kizhakkedath P; John A; Alblooshi H; Shaukat Q; Al-Jasmi F
    Front Pediatr; 2023; 11():1183574. PubMed ID: 37502193
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A homozygous mutation in SLC1A4 in siblings with severe intellectual disability and microcephaly.
    Srour M; Hamdan FF; Gan-Or Z; Labuda D; Nassif C; Oskoui M; Gana-Weisz M; Orr-Urtreger A; Rouleau GA; Michaud JL
    Clin Genet; 2015 Jul; 88(1):e1-4. PubMed ID: 25930971
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Identification of a novel homozygous variant confirms ITPA as a developmental and epileptic encephalopathy gene.
    Kaur P; Neethukrishna K; Kumble A; Girisha KM; Shukla A
    Am J Med Genet A; 2019 May; 179(5):857-861. PubMed ID: 30816001
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
    Pujol-Giménez J; Mirzaa G; Blue EE; Albano G; Miller DE; Allworth A; Bennett JT; Byers PH; Chanprasert S; Chen J; Doherty D; Folta AB; Gillentine MA; Glass I; Hing A; Horike-Pyne M; Leppig KA; Parhin A; Ranchalis J; Raskind WH; Rosenthal EA; Schwarze U; Sheppeard S; Strohbehn S; Sybert VP; Timms A; Wener M; ; Bamshad MJ; Hisama FM; Jarvik GP; Dipple KM; Hediger MA; Stergachis AB
    Ann Clin Transl Neurol; 2023 Jun; 10(6):1046-1053. PubMed ID: 37194416
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel variant of
    Yang S; Yu W; Chen Q; Wang X
    Cold Spring Harb Mol Case Stud; 2021 Apr; 7(2):. PubMed ID: 33568421
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Early Infantile Epileptic Encephalopathy with a de novo variant in ZEB2 identified by exome sequencing.
    Babkina N; Deignan JL; Lee H; Vilain E; Sankar R; Giurgea I; Mowat D; Graham JM
    Eur J Med Genet; 2016 Feb; 59(2):70-4. PubMed ID: 26721324
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Early infantile epileptic encephalopathy caused by PACS2 gene variation: three cases report and literature review].
    Wu MJ; Hu CH; Ma JH; Hu JS; Liu ZS; Sun D
    Zhonghua Er Ke Za Zhi; 2021 Jul; 59(7):594-599. PubMed ID: 34405643
    [No Abstract]   [Full Text] [Related]  

  • 14. De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay.
    Cai S; Li J; Wu Y; Jiang Y
    J Hum Genet; 2020 Jul; 65(7):601-608. PubMed ID: 32203252
    [TBL] [Abstract][Full Text] [Related]  

  • 15. A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion.
    Du X; An Y; Yu L; Liu R; Qin Y; Guo X; Sun D; Zhou S; Wu B; Jiang YH; Wang Y
    BMC Med Genet; 2014 May; 15():62. PubMed ID: 24885232
    [TBL] [Abstract][Full Text] [Related]  

  • 16. MED13 mutation: A novel cause of developmental and epileptic encephalopathy with infantile spasms.
    Trivisano M; De Dominicis A; Micalizzi A; Ferretti A; Dentici ML; Terracciano A; Calabrese C; Vigevano F; Novelli G; Novelli A; Specchio N
    Seizure; 2022 Oct; 101():211-217. PubMed ID: 36087421
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Boricua Founder Variant in
    Abdelmoumen I; Jimenez S; Valencia I; Melvin J; Legido A; Diaz-Diaz MM; Griffith C; Massingham LJ; Yelton M; Rodríguez-Hernández J; Schnur RE; Walsh LE; Cristancho AG; Bergqvist CA; McWalter K; Mathieson I; Belbin GM; Kenny EE; Ortiz-Gonzalez XR; Schneider MC
    J Child Neurol; 2021 Feb; 36(2):93-98. PubMed ID: 32928027
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.
    Madaan P; Negi S; Sharma R; Kaur A; Sahu JK
    Indian J Pediatr; 2019 Nov; 86(11):1072-1073. PubMed ID: 31444733
    [No Abstract]   [Full Text] [Related]  

  • 19. LIPT1 deficiency presenting as early infantile epileptic encephalopathy, Leigh disease, and secondary pyruvate dehydrogenase complex deficiency.
    Stowe RC; Sun Q; Elsea SH; Scaglia F
    Am J Med Genet A; 2018 May; 176(5):1184-1189. PubMed ID: 29681092
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Epileptic spasms: a previously unreported manifestation of WDR45 gene mutation.
    Xixis KI; Mikati MA
    Epileptic Disord; 2015 Dec; 17(4):467-72. PubMed ID: 26609730
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.