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Altered cardiac electrophysiology and SUDEP in a model of Dravet syndrome.

Auerbach DS, Jones J, Clawson BC, Offord J, Lenk GM, Ogiwara I, Yamakawa K, Meisler MH, Parent JM, Isom LL.

PLoS One. 2013 Oct 14;8(10):e77843. doi: 10.1371/journal.pone.0077843.


Sudden unexpected death in a mouse model of Dravet syndrome.

Kalume F, Westenbroek RE, Cheah CS, Yu FH, Oakley JC, Scheuer T, Catterall WA.

J Clin Invest. 2013 Apr;123(4):1798-808. doi: 10.1172/JCI66220.


Genetic background modulates impaired excitability of inhibitory neurons in a mouse model of Dravet syndrome.

Rubinstein M, Westenbroek RE, Yu FH, Jones CJ, Scheuer T, Catterall WA.

Neurobiol Dis. 2015 Jan;73:106-17. doi: 10.1016/j.nbd.2014.09.017.


Prolongation of action potential duration and QT interval during epilepsy linked to increased contribution of neuronal sodium channels to cardiac late Na+ current: potential mechanism for sudden death in epilepsy.

Biet M, Morin N, Lessard-Beaudoin M, Graham RK, Duss S, Gagné J, Sanon NT, Carmant L, Dumaine R.

Circ Arrhythm Electrophysiol. 2015 Aug;8(4):912-20. doi: 10.1161/CIRCEP.114.002693.


Strain- and age-dependent hippocampal neuron sodium currents correlate with epilepsy severity in Dravet syndrome mice.

Mistry AM, Thompson CH, Miller AR, Vanoye CG, George AL Jr, Kearney JA.

Neurobiol Dis. 2014 May;65:1-11. doi: 10.1016/j.nbd.2014.01.006.


Scn1b deletion leads to increased tetrodotoxin-sensitive sodium current, altered intracellular calcium homeostasis and arrhythmias in murine hearts.

Lin X, O'Malley H, Chen C, Auerbach D, Foster M, Shekhar A, Zhang M, Coetzee W, Jalife J, Fishman GI, Isom L, Delmar M.

J Physiol. 2015 Mar 15;593(6):1389-407. doi: 10.1113/jphysiol.2014.277699.


Mapping genetic modifiers of survival in a mouse model of Dravet syndrome.

Miller AR, Hawkins NA, McCollom CE, Kearney JA.

Genes Brain Behav. 2014 Feb;13(2):163-72. doi: 10.1111/gbb.12099.


A functional null mutation of SCN1B in a patient with Dravet syndrome.

Patino GA, Claes LR, Lopez-Santiago LF, Slat EA, Dondeti RS, Chen C, O'Malley HA, Gray CB, Miyazaki H, Nukina N, Oyama F, De Jonghe P, Isom LL.

J Neurosci. 2009 Aug 26;29(34):10764-78. doi: 10.1523/JNEUROSCI.2475-09.2009.


Sudden unexpected death in Dravet syndrome: respiratory and other physiological dysfunctions.

Kalume F.

Respir Physiol Neurobiol. 2013 Nov 1;189(2):324-8. doi: 10.1016/j.resp.2013.06.026. Review.


Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development.

Tsai MS, Lee ML, Chang CY, Fan HH, Yu IS, Chen YT, You JY, Chen CY, Chang FC, Hsiao JH, Khorkova O, Liou HH, Yanagawa Y, Lee LJ, Lin SW.

Neurobiol Dis. 2015 May;77:35-48. doi: 10.1016/j.nbd.2015.02.010.


Tau reduction prevents disease in a mouse model of Dravet syndrome.

Gheyara AL, Ponnusamy R, Djukic B, Craft RJ, Ho K, Guo W, Finucane MM, Sanchez PE, Mucke L.

Ann Neurol. 2014 Sep;76(3):443-56. doi: 10.1002/ana.24230.


Impaired excitability of somatostatin- and parvalbumin-expressing cortical interneurons in a mouse model of Dravet syndrome.

Tai C, Abe Y, Westenbroek RE, Scheuer T, Catterall WA.

Proc Natl Acad Sci U S A. 2014 Jul 29;111(30):E3139-48. doi: 10.1073/pnas.1411131111.


Mechanisms by which SCN5A mutation N1325S causes cardiac arrhythmias and sudden death in vivo.

Tian XL, Yong SL, Wan X, Wu L, Chung MK, Tchou PJ, Rosenbaum DS, Van Wagoner DR, Kirsch GE, Wang Q.

Cardiovasc Res. 2004 Feb 1;61(2):256-67.


Intracellular calcium attenuates late current conducted by mutant human cardiac sodium channels.

Potet F, Beckermann TM, Kunic JD, George AL Jr.

Circ Arrhythm Electrophysiol. 2015 Aug;8(4):933-41. doi: 10.1161/CIRCEP.115.002760.


Dravet syndrome patient-derived neurons suggest a novel epilepsy mechanism.

Liu Y, Lopez-Santiago LF, Yuan Y, Jones JM, Zhang H, O'Malley HA, Patino GA, O'Brien JE, Rusconi R, Gupta A, Thompson RC, Natowicz MR, Meisler MH, Isom LL, Parent JM.

Ann Neurol. 2013 Jul;74(1):128-39. doi: 10.1002/ana.23897. Erratum in: Ann Neurol. 2015 Nov;78(5):838.


Dissecting the phenotypes of Dravet syndrome by gene deletion.

Rubinstein M, Han S, Tai C, Westenbroek RE, Hunker A, Scheuer T, Catterall WA.

Brain. 2015 Aug;138(Pt 8):2219-33. doi: 10.1093/brain/awv142.


Mouse with Nav1.1 haploinsufficiency, a model for Dravet syndrome, exhibits lowered sociability and learning impairment.

Ito S, Ogiwara I, Yamada K, Miyamoto H, Hensch TK, Osawa M, Yamakawa K.

Neurobiol Dis. 2013 Jan;49:29-40. doi: 10.1016/j.nbd.2012.08.003.


SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

Musa H, Kline CF, Sturm AC, Murphy N, Adelman S, Wang C, Yan H, Johnson BL, Csepe TA, Kilic A, Higgins RS, Janssen PM, Fedorov VV, Weiss R, Salazar C, Hund TJ, Pitt GS, Mohler PJ.

Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12528-33. doi: 10.1073/pnas.1516430112.


Identification of SCN1A and PCDH19 mutations in Chinese children with Dravet syndrome.

Kwong AK, Fung CW, Chan SY, Wong VC.

PLoS One. 2012;7(7):e41802. doi: 10.1371/journal.pone.0041802.


Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Ogiwara I, Iwasato T, Miyamoto H, Iwata R, Yamagata T, Mazaki E, Yanagawa Y, Tamamaki N, Hensch TK, Itohara S, Yamakawa K.

Hum Mol Genet. 2013 Dec 1;22(23):4784-804. doi: 10.1093/hmg/ddt331.

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