Rook MB - Search Results

1

Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions.

Volkers L, Rook MB, Das JH, Verbeek NE, Groenewegen WA, van Kempen MJ, Lindhout D, Koeleman BP. Volkers L, et al. Among authors: rook mb. Neurosci Lett. 2009 Oct 2;462(1):24-9. doi: 10.1016/j.neulet.2009.06.064. Epub 2009 Jun 25. Neurosci Lett. 2009. PMID: 19559753

2

Nav 1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome.

Volkers L, Kahlig KM, Verbeek NE, Das JH, van Kempen MJ, Stroink H, Augustijn P, van Nieuwenhuizen O, Lindhout D, George AL Jr, Koeleman BP, Rook MB. Volkers L, et al. Among authors: rook mb. Eur J Neurosci. 2011 Oct;34(8):1268-75. doi: 10.1111/j.1460-9568.2011.07826.x. Epub 2011 Aug 22. Eur J Neurosci. 2011. PMID: 21864321 Free PMC article.

3

Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation.

Volkers L, Kahlig KM, Das JH, van Kempen MJ, Lindhout D, Koeleman BP, Rook MB. Volkers L, et al. Among authors: rook mb. J Gen Physiol. 2013 Dec;142(6):641-53. doi: 10.1085/jgp.201311042. J Gen Physiol. 2013. PMID: 24277604 Free PMC article.

4

A cardiac sodium channel mutation cosegregates with a rare connexin40 genotype in familial atrial standstill.

Groenewegen WA, Firouzi M, Bezzina CR, Vliex S, van Langen IM, Sandkuijl L, Smits JP, Hulsbeek M, Rook MB, Jongsma HJ, Wilde AA. Groenewegen WA, et al. Among authors: rook mb. Circ Res. 2003 Jan 10;92(1):14-22. doi: 10.1161/01.res.0000050585.07097.d7. Circ Res. 2003. PMID: 12522116

5

P19 embryonal carcinoma cells: a suitable model system for cardiac electrophysiological differentiation at the molecular and functional level.

van der Heyden MA, van Kempen MJ, Tsuji Y, Rook MB, Jongsma HJ, Opthof T. van der Heyden MA, et al. Among authors: rook mb. Cardiovasc Res. 2003 May 1;58(2):410-22. doi: 10.1016/s0008-6363(03)00247-5. Cardiovasc Res. 2003. PMID: 12757875

6

Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.

Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA. Rook MB, et al. Cardiovasc Res. 1999 Dec;44(3):507-17. doi: 10.1016/s0008-6363(99)00350-8. Cardiovasc Res. 1999. PMID: 10690282

7

A novel LQT3 mutation implicates the human cardiac sodium channel domain IVS6 in inactivation kinetics.

Groenewegen WA, Bezzina CR, van Tintelen JP, Hoorntje TM, Mannens MM, Wilde AA, Jongsma HJ, Rook MB. Groenewegen WA, et al. Among authors: rook mb. Cardiovasc Res. 2003 Mar 15;57(4):1072-8. doi: 10.1016/s0008-6363(02)00838-6. Cardiovasc Res. 2003. PMID: 12650885

8

Na+ channel mutation leading to loss of function and non-progressive cardiac conduction defects.

Herfst LJ, Potet F, Bezzina CR, Groenewegen WA, Le Marec H, Hoorntje TM, Demolombe S, Baró I, Escande D, Jongsma HJ, Wilde AA, Rook MB. Herfst LJ, et al. Among authors: rook mb. J Mol Cell Cardiol. 2003 May;35(5):549-57. doi: 10.1016/s0022-2828(03)00078-6. J Mol Cell Cardiol. 2003. PMID: 12738236

9

Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.

Bezzina CR, Rook MB, Groenewegen WA, Herfst LJ, van der Wal AC, Lam J, Jongsma HJ, Wilde AA, Mannens MM. Bezzina CR, et al. Among authors: rook mb. Circ Res. 2003 Feb 7;92(2):159-68. doi: 10.1161/01.res.0000052672.97759.36. Circ Res. 2003. PMID: 12574143

10

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome.

Weuring WJ, Singh S, Volkers L, Rook MB, van 't Slot RH, Bosma M, Inserra M, Vetter I, Verhoeven-Duif NM, Braun KPJ, Rivara M, Koeleman BPC. Weuring WJ, et al. Among authors: rook mb. PLoS One. 2020 Mar 5;15(3):e0219106. doi: 10.1371/journal.pone.0219106. eCollection 2020. PLoS One. 2020. PMID: 32134913 Free PMC article.

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