Literature DB >> 24566939

Genetic biomarkers in epilepsy.

Yvonne G Weber1, Anne T Nies, Matthias Schwab, Holger Lerche.   

Abstract

The identification of valid biomarkers for outcome prediction of diseases and improvement of drug response, as well as avoidance of side effects is an emerging field of interest in medicine. The concept of individualized therapy is becoming increasingly important in the treatment of patients with epilepsy, as predictive markers for disease prognosis and treatment outcome are still limited. Currently, the clinical decision process for selection of an antiepileptic drug (AED) is predominately based on the patient's epileptic syndrome and side effect profiles of the AEDs, but not on effectiveness data. Although standard dosages of AEDs are used, supplemented, in part, by therapeutic monitoring, the response of an individual patient to a specific AED is generally unpredictable, and the standard care of patients in antiepileptic treatment is more or less based on trial and error. Therefore, there is an urgent need for valid predictive biomarkers to guide patient-tailored individualized treatment strategies in epilepsy, a research area that is still in its infancy. This review focuses on genomic factors as part of an individual concept for AED therapy summarizing examples that influence the prognosis of the disease and the response to AEDs, including side effects.

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Year:  2014        PMID: 24566939      PMCID: PMC3996127          DOI: 10.1007/s13311-014-0262-5

Source DB:  PubMed          Journal:  Neurotherapeutics        ISSN: 1878-7479            Impact factor:   7.620


  96 in total

1.  GLUT1 mutations are a rare cause of familial idiopathic generalized epilepsy.

Authors:  P Striano; Y G Weber; M R Toliat; J Schubert; C Leu; R Chaimana; S Baulac; R Guerrero; E LeGuern; A-E Lehesjoki; A Polvi; A Robbiano; J M Serratosa; R Guerrini; P Nürnberg; T Sander; F Zara; H Lerche; C Marini
Journal:  Neurology       Date:  2012-01-25       Impact factor: 9.910

Review 2.  Membrane transporters in drug development.

Authors:  Kathleen M Giacomini; Shiew-Mei Huang; Donald J Tweedie; Leslie Z Benet; Kim L R Brouwer; Xiaoyan Chu; Amber Dahlin; Raymond Evers; Volker Fischer; Kathleen M Hillgren; Keith A Hoffmaster; Toshihisa Ishikawa; Dietrich Keppler; Richard B Kim; Caroline A Lee; Mikko Niemi; Joseph W Polli; Yuichi Sugiyama; Peter W Swaan; Joseph A Ware; Stephen H Wright; Sook Wah Yee; Maciej J Zamek-Gliszczynski; Lei Zhang
Journal:  Nat Rev Drug Discov       Date:  2010-03       Impact factor: 84.694

Review 3.  Epilepsy biomarkers.

Authors:  Jerome Engel; Asla Pitkänen; Jeffrey A Loeb; F Edward Dudek; Edward H Bertram; Andrew J Cole; Solomon L Moshé; Samuel Wiebe; Frances E Jensen; Istvan Mody; Astrid Nehlig; Annamaria Vezzani
Journal:  Epilepsia       Date:  2013-08       Impact factor: 5.864

Review 4.  Enzyme induction with antiepileptic drugs: cause for concern?

Authors:  Martin J Brodie; Scott Mintzer; Alison M Pack; Barry E Gidal; Charles J Vecht; Dieter Schmidt
Journal:  Epilepsia       Date:  2012-09-27       Impact factor: 5.864

5.  Pharmaceutical drug transport: the issues and the implications that it is essentially carrier-mediated only.

Authors:  Douglas B Kell; Paul D Dobson; Stephen G Oliver
Journal:  Drug Discov Today       Date:  2011-05-23       Impact factor: 7.851

Review 6.  The clinical impact of pharmacogenetics on the treatment of epilepsy.

Authors:  Wolfgang Löscher; Ulrich Klotz; Fritz Zimprich; Dieter Schmidt
Journal:  Epilepsia       Date:  2008-07-08       Impact factor: 5.864

7.  The influence of C3435T polymorphism of ABCB1 gene on penetration of phenobarbital across the blood-brain barrier in patients with generalized epilepsy.

Authors:  Silvio Basic; Sanja Hajnsek; Nada Bozina; Igor Filipcic; Davor Sporis; Damir Mislov; Ana Posavec
Journal:  Seizure       Date:  2008-03-07       Impact factor: 3.184

8.  The spectrum of SCN1A-related infantile epileptic encephalopathies.

Authors:  Louise A Harkin; Jacinta M McMahon; Xenia Iona; Leanne Dibbens; James T Pelekanos; Sameer M Zuberi; Lynette G Sadleir; Eva Andermann; Deepak Gill; Kevin Farrell; Mary Connolly; Thorsten Stanley; Michael Harbord; Frederick Andermann; Jing Wang; Sat Dev Batish; Jeffrey G Jones; William K Seltzer; Alison Gardner; Grant Sutherland; Samuel F Berkovic; John C Mulley; Ingrid E Scheffer
Journal:  Brain       Date:  2007-03       Impact factor: 13.501

9.  Pharmacogenomics: a key component of personalized therapy.

Authors:  Matthias Schwab; Elke Schaeffeler
Journal:  Genome Med       Date:  2012-11-29       Impact factor: 11.117

10.  Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A.

Authors:  Dalia Kasperaviciute; Claudia B Catarino; Mar Matarin; Costin Leu; Jan Novy; Anna Tostevin; Bárbara Leal; Ellen V S Hessel; Kerstin Hallmann; Michael S Hildebrand; Hans-Henrik M Dahl; Mina Ryten; Daniah Trabzuni; Adaikalavan Ramasamy; Saud Alhusaini; Colin P Doherty; Thomas Dorn; Jörg Hansen; Günter Krämer; Bernhard J Steinhoff; Dominik Zumsteg; Susan Duncan; Reetta K Kälviäinen; Kai J Eriksson; Anne-Mari Kantanen; Massimo Pandolfo; Ursula Gruber-Sedlmayr; Kurt Schlachter; Eva M Reinthaler; Elisabeth Stogmann; Fritz Zimprich; Emilie Théâtre; Colin Smith; Terence J O'Brien; K Meng Tan; Slave Petrovski; Angela Robbiano; Roberta Paravidino; Federico Zara; Pasquale Striano; Michael R Sperling; Russell J Buono; Hakon Hakonarson; João Chaves; Paulo P Costa; Berta M Silva; António M da Silva; Pierre N E de Graan; Bobby P C Koeleman; Albert Becker; Susanne Schoch; Marec von Lehe; Philipp S Reif; Felix Rosenow; Felicitas Becker; Yvonne Weber; Holger Lerche; Karl Rössler; Michael Buchfelder; Hajo M Hamer; Katja Kobow; Roland Coras; Ingmar Blumcke; Ingrid E Scheffer; Samuel F Berkovic; Michael E Weale; Norman Delanty; Chantal Depondt; Gianpiero L Cavalleri; Wolfram S Kunz; Sanjay M Sisodiya
Journal:  Brain       Date:  2013-09-06       Impact factor: 13.501

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  3 in total

Review 1.  Impact of Genetic Polymorphisms of ABCB1 (MDR1, P-Glycoprotein) on Drug Disposition and Potential Clinical Implications: Update of the Literature.

Authors:  Stefan Wolking; Elke Schaeffeler; Holger Lerche; Matthias Schwab; Anne T Nies
Journal:  Clin Pharmacokinet       Date:  2015-07       Impact factor: 6.447

Review 2.  Individualizing Treatment Approaches for Epileptic Patients with Glucose Transporter Type1 (GLUT-1) Deficiency.

Authors:  Armond Daci; Adnan Bozalija; Fisnik Jashari; Shaip Krasniqi
Journal:  Int J Mol Sci       Date:  2018-01-05       Impact factor: 5.923

3.  Assessing the role of rare genetic variants in drug-resistant, non-lesional focal epilepsy.

Authors:  Stefan Wolking; Claudia Moreau; Mark McCormack; Roland Krause; Martin Krenn; Samuel Berkovic; Gianpiero L Cavalleri; Norman Delanty; Chantal Depondt; Michael R Johnson; Bobby P C Koeleman; Wolfram S Kunz; Holger Lerche; Anthony G Marson; Terence J O'Brien; Slave Petrovski; Josemir W Sander; Graeme J Sills; Pasquale Striano; Federico Zara; Fritz Zimprich; Sanjay M Sisodiya; Simon L Girard; Patrick Cossette
Journal:  Ann Clin Transl Neurol       Date:  2021-05-21       Impact factor: 4.511

  3 in total

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