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Resurgent and Gating Pore Currents Induced by de novo SCN2A Epilepsy Mutations.

Mason ER, Wu F, Patel RR, Xiao Y, Cannon SC, Cummins TR.

eNeuro. 2019 Sep 26. pii: ENEURO.0141-19.2019. doi: 10.1523/ENEURO.0141-19.2019. [Epub ahead of print]


A four-electrode method to study dynamics of ion activity and transport in skeletal muscle fibers.

Heiny JA, Cannon SC, DiFranco M.

J Gen Physiol. 2019 Sep 2;151(9):1146-1155. doi: 10.1085/jgp.201912398. Epub 2019 Jul 18.


Myasthenic congenital myopathy from recessive mutations at a single residue in NaV1.4.

Elia N, Palmio J, Castañeda MS, Shieh PB, Quinonez M, Suominen T, Hanna MG, Männikkö R, Udd B, Cannon SC.

Neurology. 2019 Mar 26;92(13):e1405-e1415. doi: 10.1212/WNL.0000000000007185. Epub 2019 Mar 1.


Recovery from acidosis is a robust trigger for loss of force in murine hypokalemic periodic paralysis.

Mi W, Wu F, Quinonez M, DiFranco M, Cannon SC.

J Gen Physiol. 2019 Apr 1;151(4):555-566. doi: 10.1085/jgp.201812231. Epub 2019 Feb 7.


Skeletal muscle channelopathy: a new risk for sudden infant death syndrome.

Cannon SC.

Lancet. 2018 Apr 14;391(10129):1457-1458. doi: 10.1016/S0140-6736(18)30477-X. Epub 2018 Apr 5. No abstract available.


Kv4.2 autism and epilepsy mutation enhances inactivation of closed channels but impairs access to inactivated state after opening.

Lin MA, Cannon SC, Papazian DM.

Proc Natl Acad Sci U S A. 2018 Apr 10;115(15):E3559-E3568. doi: 10.1073/pnas.1717082115. Epub 2018 Mar 26.


Stac3 enhances expression of human CaV1.1 in Xenopus oocytes and reveals gating pore currents in HypoPP mutant channels.

Wu F, Quinonez M, DiFranco M, Cannon SC.

J Gen Physiol. 2018 Mar 5;150(3):475-489. doi: 10.1085/jgp.201711962. Epub 2018 Jan 31.


An atypical CaV1.1 mutation reveals a common mechanism for hypokalemic periodic paralysis.

Cannon SC.

J Gen Physiol. 2017 Dec 4;149(12):1061-1064. doi: 10.1085/jgp.201711923. Epub 2017 Nov 14. No abstract available.


Review of the Diagnosis and Treatment of Periodic Paralysis.

Statland JM, Fontaine B, Hanna MG, Johnson NE, Kissel JT, Sansone VA, Shieh PB, Tawil RN, Trivedi J, Cannon SC, Griggs RC.

Muscle Nerve. 2018 Apr;57(4):522-530. doi: 10.1002/mus.26009. Epub 2017 Nov 29. Review.


Sodium Channelopathies of Skeletal Muscle.

Cannon SC.

Handb Exp Pharmacol. 2018;246:309-330. doi: 10.1007/164_2017_52. Review.


Mind the magnesium, in dantrolene suppression of malignant hyperthermia.

Cannon SC.

Proc Natl Acad Sci U S A. 2017 May 2;114(18):4576-4578. doi: 10.1073/pnas.1704103114. Epub 2017 Apr 25. No abstract available.


Mice with an NaV1.4 sodium channel null allele have latent myasthenia, without susceptibility to periodic paralysis.

Wu F, Mi W, Fu Y, Struyk A, Cannon SC.

Brain. 2016 Jun;139(Pt 6):1688-99. doi: 10.1093/brain/aww070. Epub 2016 Apr 5.


When all is lost…a severe myopathy with hypotonia from sodium channel mutations.

Cannon SC.

Brain. 2016 Mar;139(Pt 3):642-4. doi: 10.1093/brain/awv400. No abstract available.


Randomized, placebo-controlled trials of dichlorphenamide in periodic paralysis.

Sansone VA, Burge J, McDermott MP, Smith PC, Herr B, Tawil R, Pandya S, Kissel J, Ciafaloni E, Shieh P, Ralph JW, Amato A, Cannon SC, Trivedi J, Barohn R, Crum B, Mitsumoto H, Pestronk A, Meola G, Conwit R, Hanna MG, Griggs RC; Muscle Study Group.

Neurology. 2016 Apr 12;86(15):1408-1416. doi: 10.1212/WNL.0000000000002416. Epub 2016 Feb 10.


A peptide encoded by a transcript annotated as long noncoding RNA enhances SERCA activity in muscle.

Nelson BR, Makarewich CA, Anderson DM, Winders BR, Troupes CD, Wu F, Reese AL, McAnally JR, Chen X, Kavalali ET, Cannon SC, Houser SR, Bassel-Duby R, Olson EN.

Science. 2016 Jan 15;351(6270):271-5. doi: 10.1126/science.aad4076.


Channelopathies of skeletal muscle excitability.

Cannon SC.

Compr Physiol. 2015 Apr;5(2):761-90. doi: 10.1002/cphy.c140062. Review.


Disrupted coupling of gating charge displacement to Na+ current activation for DIIS4 mutations in hypokalemic periodic paralysis.

Mi W, Rybalchenko V, Cannon SC.

J Gen Physiol. 2014 Aug;144(2):137-45. doi: 10.1085/jgp.201411199. Epub 2014 Jul 14.


Nondystrophic myotonia: challenges and future directions.

Trivedi JR, Cannon SC, Griggs RC.

Exp Neurol. 2014 Mar;253:28-30. doi: 10.1016/j.expneurol.2013.12.005. Epub 2013 Dec 18.


Beneficial effects of bumetanide in a CaV1.1-R528H mouse model of hypokalaemic periodic paralysis.

Wu F, Mi W, Cannon SC.

Brain. 2013 Dec;136(Pt 12):3766-74. doi: 10.1093/brain/awt280. Epub 2013 Oct 18.


Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility.

Nelson BR, Wu F, Liu Y, Anderson DM, McAnally J, Lin W, Cannon SC, Bassel-Duby R, Olson EN.

Proc Natl Acad Sci U S A. 2013 Jul 16;110(29):11881-6. doi: 10.1073/pnas.1310571110. Epub 2013 Jul 1.


Bumetanide prevents transient decreases in muscle force in murine hypokalemic periodic paralysis.

Wu F, Mi W, Cannon SC.

Neurology. 2013 Mar 19;80(12):1110-6. doi: 10.1212/WNL.0b013e3182886a0e. Epub 2013 Feb 20.


A calcium channel mutant mouse model of hypokalemic periodic paralysis.

Wu F, Mi W, Hernández-Ochoa EO, Burns DK, Fu Y, Gray HF, Struyk AF, Schneider MF, Cannon SC.

J Clin Invest. 2012 Dec;122(12):4580-91. doi: 10.1172/JCI66091. Epub 2012 Nov 26.


Small fiber neuropathy: a bit less idiopathic?

Cannon SC.

Neurology. 2012 May 22;78(21):1626-7. doi: 10.1212/WNL.0b013e318257517a. Epub 2012 Apr 25. No abstract available.


A sodium channel knockin mutant (NaV1.4-R669H) mouse model of hypokalemic periodic paralysis.

Wu F, Mi W, Burns DK, Fu Y, Gray HF, Struyk AF, Cannon SC.

J Clin Invest. 2011 Oct;121(10):4082-94. doi: 10.1172/JCI57398. Epub 2011 Sep 1.


The common missense mutation D489N in TRIM32 causing limb girdle muscular dystrophy 2H leads to loss of the mutated protein in knock-in mice resulting in a Trim32-null phenotype.

Kudryashova E, Struyk A, Mokhonova E, Cannon SC, Spencer MJ.

Hum Mol Genet. 2011 Oct 15;20(20):3925-32. doi: 10.1093/hmg/ddr311. Epub 2011 Jul 20.


Identification and functional characterization of Kir2.6 mutations associated with non-familial hypokalemic periodic paralysis.

Cheng CJ, Lin SH, Lo YF, Yang SS, Hsu YJ, Cannon SC, Huang CL.

J Biol Chem. 2011 Aug 5;286(31):27425-35. doi: 10.1074/jbc.M111.249656. Epub 2011 Jun 10. Erratum in: J Biol Chem. 2011 Sep 23;286(38):33707.


Leaky sodium channels from voltage sensor mutations in periodic paralysis, but not paramyotonia.

Francis DG, Rybalchenko V, Struyk A, Cannon SC.

Neurology. 2011 May 10;76(19):1635-41. doi: 10.1212/WNL.0b013e318219fb57. Epub 2011 Apr 13.


Voltage-sensor mutations in channelopathies of skeletal muscle.

Cannon SC.

J Physiol. 2010 Jun 1;588(Pt 11):1887-95. doi: 10.1113/jphysiol.2010.186874. Epub 2010 Feb 15. Review.


Sodium channels gone wild: resurgent current from neuronal and muscle channelopathies.

Cannon SC, Bean BP.

J Clin Invest. 2010 Jan;120(1):80-3. doi: 10.1172/JCI41340. Epub 2009 Dec 28.


The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

Matthews E, Fialho D, Tan SV, Venance SL, Cannon SC, Sternberg D, Fontaine B, Amato AA, Barohn RJ, Griggs RC, Hanna MG; CINCH Investigators.

Brain. 2010 Jan;133(Pt 1):9-22. doi: 10.1093/brain/awp294. Epub 2009 Nov 16. Review.


Getting a charge out of periodic paralysis?

Cannon SC.

Neurology. 2009 May 5;72(18):1540-1. doi: 10.1212/01.wnl.0000345878.82061.cb. Epub 2009 Feb 25. No abstract available.


Slow inactivation of the NaV1.4 sodium channel in mammalian cells is impeded by co-expression of the beta1 subunit.

Webb J, Wu FF, Cannon SC.

Pflugers Arch. 2009 Apr;457(6):1253-63. doi: 10.1007/s00424-008-0600-8. Epub 2008 Oct 22.


Gating pore currents in DIIS4 mutations of NaV1.4 associated with periodic paralysis: saturation of ion flux and implications for disease pathogenesis.

Struyk AF, Markin VS, Francis D, Cannon SC.

J Gen Physiol. 2008 Oct;132(4):447-64. doi: 10.1085/jgp.200809967.


Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness.

Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, Salajegheh M, Wu FF, Matsuda C, Reid V, Cros D, Hoffman EP, Renaud JM, Cannon SC, Brown RH Jr.

J Clin Invest. 2008 Apr;118(4):1437-49. doi: 10.1172/JCI32638.


Cold-induced defects of sodium channel gating in atypical periodic paralysis plus myotonia.

Webb J, Cannon SC.

Neurology. 2008 Mar 4;70(10):755-61. Epub 2007 Sep 26.


Physiologic principles underlying ion channelopathies.

Cannon SC.

Neurotherapeutics. 2007 Apr;4(2):174-83. Review.


Pathomechanisms in channelopathies of skeletal muscle and brain.

Cannon SC.

Annu Rev Neurosci. 2006;29:387-415. Review.


The primary periodic paralyses: diagnosis, pathogenesis and treatment.

Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC; CINCH investigators.

Brain. 2006 Jan;129(Pt 1):8-17. Epub 2005 Sep 29. Review.


A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.

Wu FF, Gordon E, Hoffman EP, Cannon SC.

J Physiol. 2005 Jun 1;565(Pt 2):371-80. Epub 2005 Mar 17.


Truncated ClC-1 mRNA in myotonic dystrophy exerts a dominant-negative effect on the Cl current.

Berg J, Jiang H, Thornton CA, Cannon SC.

Neurology. 2004 Dec 28;63(12):2371-5.


Myasthenic syndrome caused by mutation of the SCN4A sodium channel.

Tsujino A, Maertens C, Ohno K, Shen XM, Fukuda T, Harper CM, Cannon SC, Engel AG.

Proc Natl Acad Sci U S A. 2003 Jun 10;100(12):7377-82. Epub 2003 May 23.


Expanded CUG repeats trigger aberrant splicing of ClC-1 chloride channel pre-mRNA and hyperexcitability of skeletal muscle in myotonic dystrophy.

Mankodi A, Takahashi MP, Jiang H, Beck CL, Bowers WJ, Moxley RT, Cannon SC, Thornton CA.

Mol Cell. 2002 Jul;10(1):35-44.


An expanding view for the molecular basis of familial periodic paralysis.

Cannon SC.

Neuromuscul Disord. 2002 Aug;12(6):533-43. Review.


Sodium channel gating: no margin for error.

Cannon SC.

Neuron. 2002 Jun 13;34(6):853-4.


A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.

Wu FF, Takahashi MP, Pegoraro E, Angelini C, Colleselli P, Cannon SC, Hoffman EP.

Neurology. 2001 Apr 10;56(7):878-84.


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