Ryanodine calcium channel: A novel channelopathy for seizures

Neurologist

Volumn 17, Issue 2, 2011, Pages 91-94

  Nagrani, Tarun ^a   Siyamwala, Munaf ^a   Vahid, Ghiasian ^a   Bekheit, Soad ^a  

^a STATEN ISLAND UNIVERSITY HOSPITAL   (United States)

Author keywords

arrhythmias; seizures; Stokes Adams attacks

Indexed keywords

ANTICONVULSIVE AGENT; CALCIUM CHANNEL; MEXILETINE; NADOLOL; RYANODINE;

ADULT; ANTICONVULSANT THERAPY; ARTICLE; BLURRED VISION; CASE REPORT; CHANNELOPATHY; COMPUTER ASSISTED TOMOGRAPHY; CONSCIOUSNESS; DEFIBRILLATOR; DIAPHORESIS; DIZZINESS; ELECTROCARDIOGRAM; ELECTROENCEPHALOGRAM; EMERGENCY WARD; FALLING; GENETIC SCREENING; HEART ARRHYTHMIA; HUMAN; MALE; NAUSEA; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMORPHIC VENTRICULAR TACHYCARDIA; PRIORITY JOURNAL; PULSE OXIMETRY; QRS COMPLEX; QT INTERVAL; SEIZURE; SINUS RHYTHM; SINUS TACHYCARDIA;

ADOLESCENT; ANIMALS; CHANNELOPATHIES; ELECTROCARDIOGRAPHY; ELECTROENCEPHALOGRAPHY; HUMANS; MALE; MICE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEIZURES; TACHYCARDIA, VENTRICULAR;

EID: 79952379796     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e3181ef0d52     Document Type: Article

References (15)

1. Lahat H, Pras E, Olender T,etal. A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachy-cardia in Bedouin families from Israel. Am J Hum Genet. 2001;69: 1378-1384. (Pubitemid 33124218)
2. Leenhardt A, Lucet V, Denjoy I, et al. Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of21 patients. Circulation. 1995;91:1512-1519.
3. Liu N, Ruan Y, Priori S. Catecholaminergic polymorphic ventricular tachycardia. Prog Cardiovasc Dis. 2008;51:23-30. (Pubitemid 351965496)
4. Postma AV, Denjoy I, Kamblock J, et al. Catecho-laminergic polymorphic ventricular tachycardia: RYR2 mutations, bradycardia, and follow up of the patients. J Med Genet. 2005; 42:863-870. (Pubitemid 41598196)
5. Priori SG, Napolitano C, Tiso N, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103: 196-200. (Pubitemid 32095402)
6. Priori SG, Napolitano C, Memmi M, et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69-74. (Pubitemid 34747444)
7. Tester DJ, Spoon DB, Valdivia HH, et al. Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc. 2004;79: 1380-1384. (Pubitemid 39453301)
8. Wehrens XH, Lehnart SE, Huang F, et al. FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell. 2003;113:829-840. (Pubitemid 36792028)
9. Viatchenko-Karpinski S, Terentyev D, Györke I, et al. Abnormal calcium signaling and sudden cardiac death associated with mutation of calsequestrin. Circ Res. 2004;94: 471-477. (Pubitemid 38326282)
10. Mori F, Okada M, Tomiyama M, et al. Effects of ryanodine receptor activation on neurotransmitter release and neuronal cell death following kainic acid-induced status epilepticus. Epilepsy Res. 2005;65:59-70. (Pubitemid 41039045)
11. Tian GF, Azmi H, Takano T, et al. An astrocytic basis ofepilepsy. Nat Med. 2005;11:973-981.
12. Lehnart SE, Mongillo M, Bellinger A, et al. Leaky Ca2+ release channel/ryanodine receptor 2 causes seizures and sudden cardiac death in mice. J Clin Invest. 2008;118:2230-2245. (Pubitemid 351872341)
13. Hunter JV, Moss AJ. Seizures and arrhythmias: differing phenotypes of a common channelopathy? Neurology. 2009;72:208-209.
14. Jouvenceau A, Eunson LH, Spauschus A, et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet. 2001;358:801-807. (Pubitemid 32868732)
15. Song I, Kim D, Choi S, et al. Role of the alpha1G T-type calcium channel in spontaneous absence seizures in mutant mice. JNeurosci. 2004;24:5249-5257. (Pubitemid 38725408)