Imperial College London
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ProfessorMichaelJohnson

Faculty of Medicine, Department of Brain Sciences

Professor of Neurology and Genomic Medicine
 
 
 
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Contact

 

m.johnson Website

 
 
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Location

 

E419Burlington DanesHammersmith Campus

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Summary

 

Publications

Citation

BibTex format

@article{Berghuis:2019:10.1002/epi4.12297,
author = {Berghuis, B and Stapleton, C and Sonsma, ACM and Hulst, J and de, Haan GJ and Lindhout, D and Demurtas, R and Krause, R and Depondt, C and Kunz, WS and Zara, F and Striano, P and Craig, J and Auce, P and Marson, AG and Stefansson, H and O'Brien, TJ and Johnson, MR and Sills, GJ and Wolking, S and Lerche, H and Sisodiya, SM and Sander, JW and Cavalleri, GL and Koeleman, BPC and McCormack, M},
doi = {10.1002/epi4.12297},
journal = {Epilepsia Open},
pages = {102--109},
title = {A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine},
url = {http://dx.doi.org/10.1002/epi4.12297},
volume = {4},
year = {2019}
}
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RIS format (EndNote, RefMan)

TY  - JOUR
AB  - Epilepsia Open published by Wiley Periodicals Inc. on behalf of International League Against Epilepsy. Objective: To ascertain the clinical and genetic factors contributing to carbamazepine- and oxcarbazepine-induced hyponatremia (COIH), and to carbamazepine (CBZ) metabolism, in a retrospectively collected, cross-sectional cohort of people with epilepsy. Methods: We collected data on serum sodium levels and antiepileptic drug levels in people with epilepsy attending a tertiary epilepsy center while on treatment with CBZ or OXC. We defined hyponatremia as Na+ ≤134 mEq/L. We estimated the CBZ metabolic ratio defined as the log transformation of the ratio of metabolite CBZ-diol to unchanged drug precursor substrate as measured in serum. Results: Clinical and genetic data relating to carbamazepine and oxcarbazepine trials were collected in 1141 patients. We did not observe any genome-wide significant associations with sodium level in a linear trend or hyponatremia as a dichotomous trait. Age, sex, number of comedications, phenytoin use, phenobarbital use, and sodium valproate use were significant predictors of CBZ metabolic ratio. No genome-wide significant associations with CBZ metabolic ratio were found. Significance: Although we did not detect a genetic predictor of hyponatremia or CBZ metabolism in our cohort, our findings suggest that the determinants of CBZ metabolism are multifactorial.
AU  - Berghuis,B
AU  - Stapleton,C
AU  - Sonsma,ACM
AU  - Hulst,J
AU  - de,Haan GJ
AU  - Lindhout,D
AU  - Demurtas,R
AU  - Krause,R
AU  - Depondt,C
AU  - Kunz,WS
AU  - Zara,F
AU  - Striano,P
AU  - Craig,J
AU  - Auce,P
AU  - Marson,AG
AU  - Stefansson,H
AU  - O'Brien,TJ
AU  - Johnson,MR
AU  - Sills,GJ
AU  - Wolking,S
AU  - Lerche,H
AU  - Sisodiya,SM
AU  - Sander,JW
AU  - Cavalleri,GL
AU  - Koeleman,BPC
AU  - McCormack,M
DO  - 10.1002/epi4.12297
EP  - 109
PY  - 2019///
SN  - 2470-9239
SP  - 102
TI  - A genome-wide association study of sodium levels and drug metabolism in an epilepsy cohort treated with carbamazepine and oxcarbazepine
T2  - Epilepsia Open
UR  - http://dx.doi.org/10.1002/epi4.12297
UR  - http://hdl.handle.net/10044/1/69361
VL  - 4
ER  -
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