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 *

179 related articles for article (PubMed ID: 31868227)

  • 1. BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
    Scheffer IE; Boysen KE; Schneider AL; Myers CT; Mehaffey MG; Rochtus AM; Yuen YP; Ronen GM; Chak WK; Gill D; Poduri A; Mefford HC
    Dev Med Child Neurol; 2020 Sep; 62(9):1096-1099. PubMed ID: 31868227
    [TBL] [Abstract][Full Text] [Related]  

  • 2. An intronic variant in BRAT1 creates a cryptic splice site, causing epileptic encephalopathy without prominent rigidity.
    Colak FK; Guleray N; Azapagasi E; Yazıcı MU; Aksoy E; Ceylan N
    Acta Neurol Belg; 2020 Dec; 120(6):1425-1432. PubMed ID: 33040300
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Lethal Neonatal Rigidity and Multifocal Seizure Syndrome--A Misnamed Disorder?
    Hanes I; Kozenko M; Callen DJ
    Pediatr Neurol; 2015 Dec; 53(6):535-40. PubMed ID: 26483087
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel pathogenic variant of
    Pourahmadiyan A; Heidari M; Shojaaldini Ardakani H; Noorian S; Savad S
    Int J Neurosci; 2021 Sep; 131(9):875-878. PubMed ID: 32345087
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndrome.
    Li S; Yu S; Zhang Y; Wang Y; Jiang X; Wu C
    Mol Genet Genomic Med; 2023 Jan; 11(1):e2092. PubMed ID: 36367347
    [TBL] [Abstract][Full Text] [Related]  

  • 6. BRAT1 mutations present with a spectrum of clinical severity.
    Srivastava S; Olson HE; Cohen JS; Gubbels CS; Lincoln S; Davis BT; Shahmirzadi L; Gupta S; Picker J; Yu TW; Miller DT; Soul JS; Poretti A; Naidu S
    Am J Med Genet A; 2016 Sep; 170(9):2265-73. PubMed ID: 27282546
    [TBL] [Abstract][Full Text] [Related]  

  • 7. BRAT1-associated neurodegeneration: Intra-familial phenotypic differences in siblings.
    Smith NJ; Lipsett J; Dibbens LM; Heron SE
    Am J Med Genet A; 2016 Nov; 170(11):3033-3038. PubMed ID: 27480663
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in BRAT1 cause autosomal recessive progressive encephalopathy: Report of a Spanish patient.
    Fernández-Jaén A; Álvarez S; So EY; Ouchi T; Jiménez de la Peña M; Duat A; Fernández-Mayoralas DM; Fernández-Perrone AL; Albert J; Calleja-Pérez B
    Eur J Paediatr Neurol; 2016 May; 20(3):421-5. PubMed ID: 26947546
    [TBL] [Abstract][Full Text] [Related]  

  • 9. BRAT1-related disease--identification of a patient without early lethality.
    Mundy SA; Krock BL; Mao R; Shen JJ
    Am J Med Genet A; 2016 Mar; 170(3):699-702. PubMed ID: 26494257
    [TBL] [Abstract][Full Text] [Related]  

  • 10. BRAT1 Mutation Retrospective Diagnosis: A Case Report.
    Vercellino F; Valerio M; Dusio MP; Spano A; D'Alfonso S
    Cureus; 2023 Mar; 15(3):e35655. PubMed ID: 37009381
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel variant in BRAT1 with the lethal neonatal rigidity and multifocal seizure syndrome.
    Li W; Wu S; Xu H; Zhao X; Pan Y; Huang H; Lv H; Zhu X; Liu Y
    Pediatr Res; 2022 Feb; 91(3):565-571. PubMed ID: 33790413
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A review of the clinical spectrum of
    Fowkes R; Elwan M; Akay E; Mitchell CJ; Thomas RH; Lewis-Smith D
    Epilepsy Behav Rep; 2022; 19():100549. PubMed ID: 35620305
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
    Saitsu H; Yamashita S; Tanaka Y; Tsurusaki Y; Nakashima M; Miyake N; Matsumoto N
    J Hum Genet; 2014 Dec; 59(12):687-90. PubMed ID: 25319849
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Clinical and Neurophysiologic Phenotypes in Neonates With
    Carapancea E; Cornet MC; Milh M; De Cosmo L; Huang EJ; Granata T; Striano P; Ceulemans B; Stein A; Morris-Rosendahl D; Conti G; Mitra N; Raymond FL; Rowitch DH; Solazzi R; Vercellino F; De Liso P; D'Onofrio G; Boniver C; Danhaive O; Carkeek K; Salpietro V; Weckhuysen S; Fedrigo M; Angelini A; Castellotti B; Lederer D; Benoit V; Raviglione F; Guerrini R; Dilena R; Cilio MR
    Neurology; 2023 Mar; 100(12):e1234-e1247. PubMed ID: 36599696
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures.
    Burgess R; Wang S; McTague A; Boysen KE; Yang X; Zeng Q; Myers KA; Rochtus A; Trivisano M; Gill D; ; Sadleir LG; Specchio N; Guerrini R; Marini C; Zhang YH; Mefford HC; Kurian MA; Poduri AH; Scheffer IE
    Ann Neurol; 2019 Dec; 86(6):821-831. PubMed ID: 31618474
    [TBL] [Abstract][Full Text] [Related]  

  • 16. SCN2A encephalopathy: A major cause of epilepsy of infancy with migrating focal seizures.
    Howell KB; McMahon JM; Carvill GL; Tambunan D; Mackay MT; Rodriguez-Casero V; Webster R; Clark D; Freeman JL; Calvert S; Olson HE; Mandelstam S; Poduri A; Mefford HC; Harvey AS; Scheffer IE
    Neurology; 2015 Sep; 85(11):958-66. PubMed ID: 26291284
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinico-pathological correlation in case of BRAT1 mutation.
    Szymańska K; Laure-Kamionowska M; Szczałuba K; Koppolu A; Furmanek M; Kuśmierska K; Boniel S; Płoski R; Rydzanicz M
    Folia Neuropathol; 2018; 56(4):362-371. PubMed ID: 30786674
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Early-Onset Severe Encephalopathy with Epilepsy: The BRAT1 Gene Should Be Added to the List of Causes.
    van de Pol LA; Wolf NI; van Weissenbruch MM; Stam CJ; Weiss JM; Waisfisz Q; Kevelam SH; Bugiani M; van de Kamp JM; van der Knaap MS
    Neuropediatrics; 2015 Dec; 46(6):392-400. PubMed ID: 26535877
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Early-onset epileptic encephalopathy with migrating focal seizures associated with a FARS2 homozygous nonsense variant.
    Ville D; Lesca G; Labalme A; Portes VD; Arzimanoglou A; de Bellescize J
    Epileptic Disord; 2020 Jun; 22(3):327-335. PubMed ID: 32597768
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.