A common SCN1A splice-site polymorphism modifies the effect of carbamazepine on cortical excitability - A pharmacogenetic transcranial magnetic stimulation study

Epilepsia

Volumn 55, Issue 2, 2014, Pages 362-369

  Menzler, Katja ^a   Hermsen, Anke ^a   Balkenhol, Katharina ^a   Duddek, Caroline ^a   Bugiel, Hannes ^a   Bauer, Sebastian ^a   Schorge, Stephanie ^b   Reif, Philipp S ^a   Klein, Karl Martin ^a   Haag, Anja ^a   Oertel, Wolfgang H ^a   Hamer, Hajo M ^c   Knake, Susanne ^a   Trucks, Holger ^d   Sander, Thomas ^d   Rosenow, Felix ^a  

^a PHILIPPS UNIVERSITY MARBURG   (Germany)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c UNIVERSITY HOSPITAL ERLANGEN   (Germany)

^d UNIVERSITY OF COLOGNE   (Germany)

Author keywords

Cortical silent period; Drug response; Pharmacogenetics; Resting motor threshold; Transcranial magnetic stimulation

Indexed keywords

CORTICAL SILENT PERIOD; DRUG RESPONSE; PHARMACOGENETICS; RESTING MOTOR THRESHOLD; TRANSCRANIAL MAGNETIC STIMULATION;

ADOLESCENT; ADULT; ANTICONVULSANTS; CARBAMAZEPINE; CEREBRAL CORTEX; CROSS-OVER STUDIES; DOUBLE-BLIND METHOD; FEMALE; HUMANS; MALE; MIDDLE AGED; NAV1.1 VOLTAGE-GATED SODIUM CHANNEL; PHARMACOGENETICS; POLYMORPHISM, GENETIC; RNA SPLICE SITES; TRANSCRANIAL MAGNETIC STIMULATION; TREATMENT OUTCOME; YOUNG ADULT;

EID: 84894041702     PISSN: 00139580     EISSN: 15281167     Source Type: Journal    
DOI: 10.1111/epi.12515     Document Type: Article

References (34)

1. Ogiwara I, Miyamoto H, Morita N, et al. Na(v)1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: a circuit basis for epileptic seizures in mice carrying an Scn1a gene mutation. J Neurosci 2007; 27: 5903-5914.
2. Mulley JC, Scheffer IE, Petrou S, et al. SCN1A mutations and epilepsy. Hum Mutat 2005; 25: 535-542.
3. Schlachter K, Gruber-Sedlmayr U, Stogmann E, et al. A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures. Neurology 2009; 72: 974-978.
4. Le Gal F, Salzmann A, Crespel A, et al. Replication of association between a SCN1A splice variant and febrile seizures. Epilepsia 2011; 52: E135-E138.
5. Petrovski S, Scheffer I, Sisodiya S, et al. Lack of replication of association between Scn1A Snp and febrile seizures. Neurology 2009; 73: 1928-1930.
6. Zhang C, Wong V, Ng PW, et al. Failure to detect association between polymorphisms of the sodium channel gene SCN1A and febrile seizures in Chinese patients with epilepsy. Epilepsia 2010; 51: 1878-1881.
7. EPICURE consortium, Steffens M, Leu C, et al. Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32. Hum Mol Genet 2012; 21: 5359-5372.
8. Tate SK, Depondt C, Sisodiya SM, et al. Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin. Proc Natl Acad Sci USA 2005; 102: 5507-5512.
9. Heinzen EL, Yoon W, Tate SK, et al. Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A. Am J Hum Genet 2007; 80: 876-883.
10. Fletcher EV, Kullmann DM, Schorge S,. Alternative splicing modulates inactivation of type 1 voltage-gated sodium channels by toggling an amino acid in the first S3-S4 linker. J Biol Chem 2011; 286: 36700-36708.
11. Tate SK, Singh R, Hung CC, et al. A common polymorphism in the SCN1A gene associates with phenytoin serum levels at maintenance dose. Pharmacogenet Genomics 2006; 16: 721-726.
12. Abe T, Seo T, Ishitsu T, et al. Association between SCN1A polymorphism and carbamazepine-resistant epilepsy. Br J Clin Pharmacol 2008; 66: 304-307.
13. Thompson CH, Kahlig KM, George AL,. SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs. Epilepsia 2011; 52: 1000-1009.
14. Zimprich F, Stogmann E, Bonelli S, et al. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy. Epilepsia 2008; 49: 1108-1109.
15. Manna I, Gambardella A, Bianchi A, et al. A functional polymorphism in the SCN1A gene does not influence antiepileptic drug responsiveness in Italian patients with focal epilepsy. Epilepsia 2011; 52: E40-E44.
16. Ziemann U, Lonnecker S, Steinhoff BJ, et al. Effects of antiepileptic drugs on motor cortex excitability in humans: a transcranial magnetic stimulation study. Ann Neurol 1996; 40: 367-378.
17. Turazzini M, Manganotti P, Del Colle R, et al. Serum levels of carbamazepine and cortical excitability by magnetic brain stimulation. Neurol Sci 2004; 25: 83-90.
18. Ziemann U,. TMS and drugs. Clin Neurophysiol 2004; 115: 1717-1729.
19. Reis J, Wentrup A, Hamer HM, et al. Levetiracetam influences human motor cortex excitability mainly by modulation of ion channel function-a TMS study. Epilepsy Res 2004; 62: 41-51.
20. Reis J, Tergau F, Hamer HM, et al. Topiramate selectively decreases intracortical excitability in human motor cortex. Epilepsia 2002; 43: 1149-1156.
21. Reis J, John D, Heimeroth A, et al. Modulation of human motor cortex excitability by single doses of amantadine. Neuropsychopharmacology 2006; 31: 2758-2766.
22. Kujirai T, Caramia MD, Rothwell JC, et al. Corticocortical inhibition in human motor cortex. J Physiol 1993; 471: 501-519.
23. Wahl M, Ziemann U,. Kortikale Doppelpulsprotokolle. In, Siebner H, Ziemann U, (Eds) Das TMS Buch. Heidelberg: Springer Medizin Verlag, 2007: 167-176.
24. Hattemer K, Knake S, Reis J, et al. Excitability of the motor cortex during ovulatory and anovulatory cycles: a transcranial magnetic stimulation study. Clin Endocrinol 2007; 66: 387-393.
25. Hattemer K, Knake S, Reis J, et al. Cyclical excitability of the motor cortex in patients with catamenial epilepsy: a transcranial magnetic stimulation study. Seizure 2006; 15: 653-657.
26. SchulzeBonhage A, Knott H, Ferbert A,. Effects of carbamazepine on cortical excitatory and inhibitory phenomena: a study with paired transcranial magnetic stimulation. Electroencephalogr Clin Neurophysiol 1996; 99: 267-273.
27. Werhahn KJ, Kunesch E, Noachtar S, et al. Differential effects on motorcortical inhibition induced by blockade of GABA uptake in humans. J Physiol 1999; 517: 591-597.
28. Paulus W, Classen J, Cohen LG, et al. State of the art: pharmacologic effects on cortical excitability measures tested by transcranial magnetic stimulation. Brain Stimul 2008; 1: 151-163.
29. Reid AE, Chiappa KH, Cros D,. Motor threshold, facilitation and the silent period in cortical magnetic stimulation. In, Pascual-Leone A, Davey NJ, Rothwell L, Wasserman E, Basant KP,. (Eds) Handbook of transcranial magnetic stimulation. New York, NY: Oxford University Press Inc., 2002: 97-111.
30. Boroojerdi B, Battaglia F, Muellbacher W, et al. Mechanisms influencing stimulus-response properties of the human corticospinal system. Clin Neurophysiol 2001; 112: 931-937.
31. Martin MS, Dutt K, Papale LA, et al. Altered function of the SCN1A voltage-gated sodium channel leads to gamma-aminobutyric acid-ergic (GABAergic) interneuron abnormalities. J Biol Chem 2010; 285: 9823-9834.
32. Yu FH, Mantegazza M, Westenbroek RE, et al. Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 2006; 9: 1142-1149.
33. Callaghan BC, Anand K, Hesdorffer D, et al. Likelihood of seizure remission in an adult population with refractory epilepsy. Ann Neurol 2007; 62: 382-389.
34. Schmidt D, Loscher W,. Drug resistance in epilepsy: putative neurobiologic and clinical mechanisms. Epilepsia 2005; 46: 858-877.