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- Browne DL, Gancher ST, Nutt JG, et al. Episodic ataxia/ myokymia syndrome is associated with point mutations in the human potassium channel gene, KCNA1. Nat Genet 1994;8: 136–140.CrossRefPubMedGoogle Scholar
- Maylie B, Bissonnette E, Virk M, Adelman JP, Maylie JG. Episodic ataxia type 1 mutations in the human Kv1.1 potassium channel alter hKvβ1-induced N-type inactivation. J Neurosci 2002;22: 4786–4793.PubMedGoogle Scholar
- Vaamonde J, Artieda J, Obeso JA. Hereditary paroxysmal ataxia with neuromyotonia. Mov Disord 1991;6: 180–182.CrossRefPubMedGoogle Scholar
- Steckley JL, Ebers GC, Cader MZ, McLachlan RS. An autosomal dominant disorder with episodic ataxia, vertigo, and tinnitus. Neurology 2001;57: 1499–1502.PubMedGoogle Scholar
- Farmer TW, Mustian VM. Vestibulocerebellar ataxia: a newly defined hereditary syndrome with periodic manifestations. Arch Neurol 1963;8: 471–480.PubMedGoogle Scholar
- Escayg A, De Waard M, Lee DD, et al. Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 2000;66: 1531–1539.CrossRefPubMedGoogle Scholar
- Jen JC, Wan J, Palos TP, Howard BD, Baloh RW. Mutation in the glutamate transporter EAAT1 causes episodic ataxia, hemiplegia, and seizures. Neurology 2005;65: 529–534.CrossRefPubMedGoogle Scholar
- Auburger G, Ratzlaff T, Lunkes A, et al. A gene for autosomal dominant paroxysmal choreoathetosis/spasticity (CSE) maps to the vicinity of a potassium channel gene cluster on chromosome 1p, probably within 2 cM between D1S443 and D1S197. Genomics 1996;31: 90–94.CrossRefPubMedGoogle Scholar
- Griggs RC, Nutt JG. Episodic ataxias as channelopathies. Ann Neural 1995;37: 285–287.CrossRefGoogle Scholar
- Ophoff RA, Terwindt GM, Vergouwe MN, et al. Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. Cell 1996;87: 543–552.CrossRefPubMedGoogle Scholar
- Brandt T, Strupp M. Episodic ataxia type 1 and 2 (familial periodic ataxia/vertigo). Audiol Neurootol 1997;2: 373–383.CrossRefPubMedGoogle Scholar
- Imbrici P, Eunson LH, Graves TD, et al. Late-onset episodic ataxia type 2 due to an in-frame insertion in CACNA1A. Neurology 2005;65: 944–946.CrossRefPubMedGoogle Scholar
- Gancher ST, Nutt JG. Autosomal dominant episodic ataxia: a heterogeneous syndrome. Mov Disord 1986;1: 239–253.CrossRefPubMedGoogle Scholar
- Jen J, Kim GW, Baloh RW. Clinical spectrum of episodic ataxia type 2. Neurology 2004;62: 17–22.PubMedGoogle Scholar
- Brandt T, Strupp M. Migraine and vertigo: Classification, clinical features and special treatment considerations. Headache Currents 2006;3: 12–19.CrossRefGoogle Scholar
- Oh AK, Lee H, Jen JC, Corona S, Jacobson KM, Baloh RW. Familial benign recurrent vertigo. Am J Med Genet 2001;100: 287–291.CrossRefPubMedGoogle Scholar
- Lempert T, Neuhauser H. Migrainous vertigo. Neurol Clin 2005; 23: 715–30, vi.CrossRefPubMedGoogle Scholar
- Sasaki O, Jen JC, Baloh RW, Kim GW, Isawa M, Usami S. Neurotological findings in a family with episodic ataxia. J Neurol 2003;250: 373–375.CrossRefPubMedGoogle Scholar
- Rucker JC, Jen J, Stahl JS, Natesan N, Baloh RW, Leigh RJ. Intemuclear ophthalmoparesis in episodic ataxia type 2. Ann N Y Acad Sci 2005;1039: 571–574.CrossRefPubMedGoogle Scholar
- Mochizuki Y, Kawata A, Mizutani T, et al. Hereditary paroxysmal ataxia with mental retardation: a clinicopathological study in relation to episodic ataxia type 2. Acta Neuropathol (Berl) 2004;108: 345–349.CrossRefGoogle Scholar
- Spacey SD, Materek LA, Szczygielski BI, Bird TD. Two novel CACNA1A gene mutations associated with episodic ataxia type 2 and interictal dystonia. Arch Neurol 2005;62: 314–316.CrossRefPubMedGoogle Scholar
- Van Bogaert P, Szliwowski HB. EEG findings in acetazolamide-responsive hereditary paroxysmal ataxia. Neurophysiol Clin 1996; 26: 335–340.CrossRefPubMedGoogle Scholar
- Imbrici P, Jaffe SL, Eunson LH, et al. Dysfunction of the brain calcium channel Cav2.1 in absence epilepsy and episodic ataxia. Brain 2004;127: 2682–2692.CrossRefPubMedGoogle Scholar
- Vighetto A, Froment JC, Trillet M, Aimard G. Magnetic resonance imaging in familial paroxysmal ataxia. Arch Neurol 1988;45: 547–549.PubMedGoogle Scholar
- Hawkes CH. Familial paroxysmal ataxia: report of a family. J Neurol Neurosurg Psychiatry 1992;55: 212–213.CrossRefPubMedGoogle Scholar
- Bain PG, O’Brien MD, Keevil SF, Porter DA. Familial periodic cerebellar ataxia: a problem of cerebellar intracellular pH homeostasis. Ann Neurol 1992;31: 147–154.CrossRefPubMedGoogle Scholar
- Harno H, Heikkinen S, Kaunisto MA, et al. Decreased cerebellar total creatine in episodic ataxia type 2: a 1H MRS study. Neurology 2005;64: 542–544.PubMedGoogle Scholar
- Vahedi K, Joutel A, Van Bogaert P, et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Ann Neurol 1995;37: 289–293.CrossRefPubMedGoogle Scholar
- von Brederlow B, Hahn AF, Koopman WJ, Ebers GC, Bulman DE. Mapping the gene for acetazolamide responsive hereditary paryoxysmal cerebellar ataxia to chromosome 19p. Hum Mol Genet 1995; 4: 279–284.CrossRefGoogle Scholar
- Shapiro MS, Gomeza J, Hamilton SE, et al. Identification of subtypes of muscarinic receptors that regulate Ca2+ and K+ channel activity in sympathetic neurons. Life Sci 2001;68: 2481–2487.CrossRefPubMedGoogle Scholar
- Eunson LH, Graves TD, Hanna MG. New calcium channel mutations predict aberrant RNA splicing in episodic ataxia. Neurology 2005;65: 308–310.CrossRefPubMedGoogle Scholar
- Wan J, Khanna R, Sandusky M, Papazian DM, Jen JC, Baloh RW. CACNA1A mutations causing episodic and progressive ataxia alter channel trafficking and kinetics. Neurology 2005;64: 2090–2097.CrossRefPubMedGoogle Scholar
- Guida S, Trettel F, Pagnutti S, et al. Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by patients with episodic ataxia type 2. Am J Hum Genet 2001; 68: 759–764.CrossRefPubMedGoogle Scholar
- Wappl E, Koschak A, Poteser M, et al. Functional consequences of P/Q-type Ca2+ channel Cav2.1 missense mutations associated with episodic ataxia type 2 and progressive ataxia. J Biol Chem 2002; 277: 6960–6966.CrossRefPubMedGoogle Scholar
- Jodice C, Mantuano E, Veneziano L, et al. Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p. Hum Mol Genet 1997;6: 1973–1978.CrossRefPubMedGoogle Scholar
- Tottene A, Fellin T, Pagnutti S, et al. Familial hemiplegic migraine mutations increase Ca2+ influx through single human CaV2.1 channels and decrease maximal CaV2.1 current density in neurons. Proc Natl Acad Sci USA 2002;99: 13284–13289.CrossRefPubMedGoogle Scholar
- Zhuchenko O, Bailey J, Bonnen P, et al. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α1A-voltage-dependent calcium channel. Nat Genet 1997;15: 62–69.CrossRefPubMedGoogle Scholar
- Maselli RA, Wan J, Dunne V, et al. Presynaptic failure of neuromuscular transmission and synaptic remodeling in EA2. Neurology 2003;61: 1743–1748.PubMedGoogle Scholar
- Walter JT, Alvina K, Womack MD, Chevez C, Khodakhah K. Decreases in the precision of Purkinje cell pacemaking cause cerebellar dysfunction and ataxia. Nat Neurosci 2006;9: 389–397.CrossRefPubMedGoogle Scholar
- Strupp M, Kalla R, Dichgans M, Freilinger T, Glasauer S, Brandt T. Treatment of episodic ataxia type 2 with the potassium channel blocker 4-aminopyridine. Neurology 2004;62: 1623–1625.PubMedGoogle Scholar
- Hirose H, Arayama T, Takita J, Igarashi T, Hayashi Y, Nagao Y. A family of episodic ataxia type 2: no evidence of genetic linkage to the CACNA1A gene. Int J Mol Med 2003;11: 187–189.PubMedGoogle Scholar
- Cader MZ, Steckley JL, Dyment DA, McLachlan RS, Ebers GC. A genome-wide screen and linkage mapping for a large pedigree with episodic ataxia. Neurology 2005;65: 156–158.CrossRefPubMedGoogle Scholar
- D’Adamo MC, Imbrici P, Sponcichetti F, Pessia M. Mutations in the KCNA1 gene associated with episodic ataxia type-1 syndrome impair heteromeric voltage-gated K+ channel function. FASEB J 1999;13: 1335–1345.PubMedGoogle Scholar
- Sappey-Marinier D, Vighetto A, Peyron R, Broussolle E, Bonmartin A. Phosphorus and proton magnetic resonance spectroscopy in episodic ataxia type 2. Ann Neurol 1999;46: 256–259.3.0.CO%3B2-6'>CrossRefPubMedGoogle Scholar
- Fletcher CF, Lutz CM, O’Sullivan TN, et al. Absence epilepsy in tottering mutant mice is associated with calcium channel defects. Cell 1996;87: 607–617.CrossRefPubMedGoogle Scholar
- Fureman BE, Hess EJ. Noradrenergic blockade prevents attacks in a model of episodic dysfunction caused by a channelopathy. Neurobiol Dis 2005;20: 227–232.CrossRefPubMedGoogle Scholar
- Weisz CJ, Raike RS, Soria-Jasso LE, Hess EJ. Potassium channel blockers inhibit the triggers of attacks in the calcium channel mouse mutant tottering. J Neurosci 2005;25: 4141–4145.CrossRefPubMedGoogle Scholar
- Lorenzon NM, Lutz CM, Frankel WN, Beam KG. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci 1998;18: 4482–4489.PubMedGoogle Scholar
- Mori Y, Wakamori M, Oda S, et al. Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tgroI). J Neurosci 2000;20: 5654–5662.PubMedGoogle Scholar
- Calandriello L, Veneziano L, Francia A, et al. Acetazolamide-responsive episodic ataxia in an Italian family refines gene mapping on chromosome 19p13. Brain 1997;120: 805–812.CrossRefPubMedGoogle Scholar
- Griggs RC, Moxley RT 3rd, Lafrance RA, McQuillen J. Hereditary paroxysmal ataxia: response to acetazolamide. Neurology 1978; 28: 1259–1264.PubMedGoogle Scholar
- Harno H, Hirvonen T, Kaunisto MA, et al. Acetazolamide improves neurotological abnormalities in a family with episodic ataxia type 2 (EA-2). J Neurol 2004;251: 232–234.CrossRefPubMedGoogle Scholar
- Griggs RC, Engel WK, Resnick JS. Acetazolamide treatment of hypokalemic periodic paralysis: prevention of attacks and improvement of persistent weakness. Ann Intern Med 1970;73: 39–48.PubMedGoogle Scholar
- Vroom FW, Jarrell MA, Maren TH. Acetazolamide treatment of hypokalemic periodic paralysis: probable mechanism of action. Arch Neurol 1975;32: 385–392.PubMedGoogle Scholar
- Johnsen T. Effect upon serum insulin, glucose and potassium concentrations of acetazolamide during attacks of familial periodic hypokalemic paralysis. Acta Neurol Scand 1977;56: 533–541.CrossRefPubMedGoogle Scholar
- Goulon M, Raphael JC, Simon N. Periodic familial paralysis with hypokalemia: hemodynamic and metabolic studies: favorable effect of acetazolamide [In French]. Rev Neurol (Paris) 1978;134: 655–672.Google Scholar
- Donat JR, Auger R. Familial periodic ataxia. Arch Neurol 1979; 36: 568–569.PubMedGoogle Scholar
- Zasorin NL, Baloh RW, Myers LB. Acetazolamide-responsive episodic ataxia syndrome. Neurology 1983;33: 1212–1214.PubMedGoogle Scholar
- Kuzmenkin A, Muncan V, Jurkat-Rott K, et al. Enhanced inactivation and pH sensitivity of Na+ channel mutations causing hypokalaemic periodic paralysis type II. Brain 2002; 125: 835–843.CrossRefPubMedGoogle Scholar
- Woodhull AM. Ionic blockage of sodium channels in nerve. J Gen Physiol 1973;61: 687–708.CrossRefPubMedGoogle Scholar
- Spacey SD, Hildebrand ME, Materek LA, Bird TD, Snutch TP. Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. Ann Neurol 2004;56: 213–220.CrossRefPubMedGoogle Scholar
- Brunt ER, van Weerden TW. Familial paroxysmal kinesigenic ataxia and continuous myokymia. Brain 1990;113: 1361–1382.CrossRefPubMedGoogle Scholar
- Scoggan KA, Friedman JH, Bulman DE. CACNAIA mutation in a EA-2 patient responsive to acetazolamide and valproic acid. Can J Neurol Sci 2006;33: 68–72.PubMedGoogle Scholar
- Strupp M, Schuler O, Krafczyk S, et al. Treatment of downbeat nystagmus with 3,4-diaminopyridine: a placebo-controlled study. Neurology 2003;61: 165–170.PubMedGoogle Scholar
- Etzion Y, Grossman Y. Highly 4-aminopyridine sensitive delayed rectifier current modulates the excitability of guinea pig cerebellar Purkinje cells. Exp Brain Res 2001;139: 419–425.CrossRefPubMedGoogle Scholar
- Kullmann DM, Hanna MG. Neurological disorders caused by inherited ion-channel mutations. Lancet Neurol 2002;1: 157–166.CrossRefPubMedGoogle Scholar
- Kordasiewicz HB, Gomez CM. Molecular pathogenesis of spinocerbellar ataxia type 6. Neurotherapeutics 2007;4: 285–294.CrossRefPubMedGoogle Scholar
- Rajakulendran S, Schorge S, Kullmann DM, Hanna MG. Episodic ataxia type 1: A neuronal potassium channelopathy. Neurotherapeutics 2007;4: 258–266.CrossRefPubMedGoogle Scholar
Episodic Ataxia Type Ii Test
Episodic Ataxia Prognosis
Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia). Yu gi oh no download. Jun 03, 2018 EA-2 (Episodic ataxia, type 2) - mutation in CACNA1 EA-2 is caused by mutations of a calcium channel gene CACNL1A4 on chromosome 19p, which is highly expressed in the cerebellum. EA2 may be particularly important because of it's link to migraine associated vertigo (see following), which is common and can have overlapping symptomatology.