Literature DB >> 26658169

Phenytoin neurotoxicity in a child carrying new STXBP1 and CYP2C9 gene mutations.

Anna Guacci1, Massimiliano Chetta1, Francesca Rizzo1, Giovanna Marchese2, Maria Rosaria De Filippo3, Giorgio Giurato1, Giovanni Nassa1, Maria Ravo1, Roberta Tarallo1, Teresa Rocco1, Francesca Felicia Operto4, Alessandro Weisz5, Giangennaro Coppola6.   

Abstract

Entities:  

Keywords:  CYP2C9; Epileptic encephalopathy; Exome; Ohtahara syndrome; Phenytoin; STXBP1

Mesh：

Substances：

Year:  2015        PMID： 26658169     DOI： 10.1016/j.seizure.2015.11.004

Source DB:  PubMed          Journal:  Seizure        ISSN： 1059-1311            Impact factor:   3.184


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  3 in total

1.  Protein instability, haploinsufficiency, and cortical hyper-excitability underlie STXBP1 encephalopathy.

Authors:  Jovana Kovacevic; Gregoire Maroteaux; Desiree Schut; Maarten Loos; Mohit Dubey; Julika Pitsch; Esther Remmelink; Bastijn Koopmans; James Crowley; L Niels Cornelisse; Patrick F Sullivan; Susanne Schoch; Ruud F Toonen; Oliver Stiedl; Matthijs Verhage
Journal:  Brain       Date:  2018-05-01       Impact factor: 13.501

Review 2.  Epileptic Phenotypes Associated With SNAREs and Related Synaptic Vesicle Exocytosis Machinery.

Authors:  Elisa Cali; Clarissa Rocca; Vincenzo Salpietro; Henry Houlden
Journal:  Front Neurol       Date:  2022-01-13       Impact factor: 4.003

Review 3.  Therapeutic benefits of ACTH and levetiracetam in STXBP1 encephalopathy with a de novo mutation: A case report and literature review.

Authors:  Shunli Liu; Liyuan Wang; Xiao Tang Cai; Hui Zhou; Dan Yu; Zhiling Wang
Journal:  Medicine (Baltimore)       Date:  2018-05       Impact factor: 1.889
  3 in total

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