BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

331 related articles for article (PubMed ID: 26384463)

  • 1. Loss-of-function mutations of STXBP1 in patients with epileptic encephalopathy.
    Yamamoto T; Shimojima K; Yano T; Ueda Y; Takayama R; Ikeda H; Imai K
    Brain Dev; 2016 Mar; 38(3):280-4. PubMed ID: 26384463
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Epileptic patients with de novo STXBP1 mutations: Key clinical features based on 24 cases.
    Di Meglio C; Lesca G; Villeneuve N; Lacoste C; Abidi A; Cacciagli P; Altuzarra C; Roubertie A; Afenjar A; Renaldo-Robin F; Isidor B; Gautier A; Husson M; Cances C; Metreau J; Laroche C; Chouchane M; Ville D; Marignier S; Rougeot C; Lebrun M; de Saint Martin A; Perez A; Riquet A; Badens C; Missirian C; Philip N; Chabrol B; Villard L; Milh M
    Epilepsia; 2015 Dec; 56(12):1931-40. PubMed ID: 26514728
    [TBL] [Abstract][Full Text] [Related]  

  • 3. STXBP1-related encephalopathy presenting as infantile spasms and generalized tremor in three patients.
    Mignot C; Moutard ML; Trouillard O; Gourfinkel-An I; Jacquette A; Arveiler B; Morice-Picard F; Lacombe D; Chiron C; Ville D; Charles P; LeGuern E; Depienne C; Héron D
    Epilepsia; 2011 Oct; 52(10):1820-7. PubMed ID: 21762454
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern.
    Romaniello R; Zucca C; Tenderini E; Arrigoni F; Ragona F; Zorzi G; Bassi MT; Borgatti R
    J Child Neurol; 2014 Feb; 29(2):249-53. PubMed ID: 24170257
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [Clinical and genetic characteristics of children with STXBP1 encephalopathy].
    Cao JJ; Ji XN; Mao YY; Zhang PP; Liu WT; Zhang HZ; Ding N; Chen Q
    Zhonghua Er Ke Za Zhi; 2020 Jun; 58(6):493-498. PubMed ID: 32521962
    [No Abstract]   [Full Text] [Related]  

  • 6. Novel STXBP1 mutations in 2 patients with early infantile epileptic encephalopathy.
    Sampaio M; Rocha R; Biskup S; Leão M
    J Child Neurol; 2015 Apr; 30(5):622-4. PubMed ID: 23533165
    [TBL] [Abstract][Full Text] [Related]  

  • 7. De novo mutations of STXBP1 in Chinese children with early onset epileptic encephalopathy.
    Li T; Cheng M; Wang J; Hong S; Li M; Liao S; Xie L; Jiang L
    Genes Brain Behav; 2018 Nov; 17(8):e12492. PubMed ID: 29896790
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Neonatal suppression-burst without epileptic seizures: expanding the electroclinical phenotype of STXBP1-related, early-onset encephalopathy.
    Mastrangelo M; Peron A; Spaccini L; Novara F; Scelsa B; Introvini P; Raviglione F; Faiola S; Zuffardi O
    Epileptic Disord; 2013 Mar; 15(1):55-61. PubMed ID: 23531706
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel mutation in STXBP1 causing epileptic encephalopathy (late onset infantile spasms) with partial respiratory chain complex IV deficiency.
    Barcia G; Barnerias C; Rio M; Siquier-Pernet K; Desguerre I; Colleaux L; Munnich A; Rotig A; Nabbout R
    Eur J Med Genet; 2013 Dec; 56(12):683-5. PubMed ID: 24095819
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Early epileptic encephalopathies associated with STXBP1 mutations: Could we better delineate the phenotype?
    Barcia G; Chemaly N; Gobin S; Milh M; Van Bogaert P; Barnerias C; Kaminska A; Dulac O; Desguerre I; Cormier V; Boddaert N; Nabbout R
    Eur J Med Genet; 2014 Jan; 57(1):15-20. PubMed ID: 24189369
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations.
    Milh M; Villeneuve N; Chouchane M; Kaminska A; Laroche C; Barthez MA; Gitiaux C; Bartoli C; Borges-Correia A; Cacciagli P; Mignon-Ravix C; Cuberos H; Chabrol B; Villard L
    Epilepsia; 2011 Oct; 52(10):1828-34. PubMed ID: 21770924
    [TBL] [Abstract][Full Text] [Related]  

  • 12. STXBP1 encephalopathy is associated with awake bruxism.
    Rezazadeh A; Uddin M; Snead OC; Lira V; Silberberg A; Weiss S; Donner EJ; Zak M; Bradbury L; Scherer SW; Fasano A; Andrade DM
    Epilepsy Behav; 2019 Mar; 92():121-124. PubMed ID: 30654231
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Reduction of seizure frequency after epilepsy surgery in a patient with STXBP1 encephalopathy and clinical description of six novel mutation carriers.
    Weckhuysen S; Holmgren P; Hendrickx R; Jansen AC; Hasaerts D; Dielman C; de Bellescize J; Boutry-Kryza N; Lesca G; Von Spiczak S; Helbig I; Gill D; Yendle S; Møller RS; Klitten L; Korff C; Godfraind C; Van Rijckevorsel K; De Jonghe P; Hjalgrim H; Scheffer IE; Suls A
    Epilepsia; 2013 May; 54(5):e74-80. PubMed ID: 23409955
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel mutation in STXBP1 gene in a patient with non-lesional Ohtahara syndrome.
    Ortega-Moreno L; Giráldez BG; Verdú A; García-Campos O; Sánchez-Martín G; Serratosa JM; Guerrero-López R
    Neurologia; 2016 Oct; 31(8):523-7. PubMed ID: 25631041
    [TBL] [Abstract][Full Text] [Related]  

  • 15. STXBP1 mutations in early infantile epileptic encephalopathy with suppression-burst pattern.
    Saitsu H; Kato M; Okada I; Orii KE; Higuchi T; Hoshino H; Kubota M; Arai H; Tagawa T; Kimura S; Sudo A; Miyama S; Takami Y; Watanabe T; Nishimura A; Nishiyama K; Miyake N; Wada T; Osaka H; Kondo N; Hayasaka K; Matsumoto N
    Epilepsia; 2010 Dec; 51(12):2397-405. PubMed ID: 20887364
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical spectrum of early-onset epileptic encephalopathies associated with STXBP1 mutations.
    Deprez L; Weckhuysen S; Holmgren P; Suls A; Van Dyck T; Goossens D; Del-Favero J; Jansen A; Verhaert K; Lagae L; Jordanova A; Van Coster R; Yendle S; Berkovic SF; Scheffer I; Ceulemans B; De Jonghe P
    Neurology; 2010 Sep; 75(13):1159-65. PubMed ID: 20876469
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mislocalization of syntaxin-1 and impaired neurite growth observed in a human iPSC model for STXBP1-related epileptic encephalopathy.
    Yamashita S; Chiyonobu T; Yoshida M; Maeda H; Zuiki M; Kidowaki S; Isoda K; Morimoto M; Kato M; Saitsu H; Matsumoto N; Nakahata T; Saito MK; Hosoi H
    Epilepsia; 2016 Apr; 57(4):e81-6. PubMed ID: 26918652
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Analysis of conditional heterozygous STXBP1 mutations in human neurons.
    Patzke C; Han Y; Covy J; Yi F; Maxeiner S; Wernig M; Südhof TC
    J Clin Invest; 2015 Sep; 125(9):3560-71. PubMed ID: 26280581
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.
    Al Mehdi K; Fouad B; Zouhair E; Boutaina B; Yassine N; Chaimaa AEC; Najat S; Hassan R; Rachida R; Abdelhamid B; Halima N
    Biomed Res Int; 2019; 2019():4872101. PubMed ID: 31976320
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Early-onset epileptic encephalopathy with myoclonic seizures related to 9q33.3-q34.11 deletion involving STXBP1 and SPTAN1 genes.
    Aravindhan A; Shah K; Pak J; Veerapandiyan A
    Epileptic Disord; 2018 Jun; 20(3):214-218. PubMed ID: 29897043
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.