Ion channels and epilepsy in man and mouse

Current Opinion in Genetics and Development

Volumn 10, Issue 3, 2000, Pages 286-291

  Steinlein, Ortrud K ^a   Noebels, Jeffrey L ^b  

^a UNIVERSITY OF BONN   (Germany)

^b Neurology Department Texas Medical school   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CHANNEL; ION CHANNEL; POTASSIUM; POTASSIUM CHANNEL; PROTEIN; SODIUM; SODIUM CHANNEL;

ANIMAL EXPERIMENT; ANIMAL MODEL; CHANNEL GATING; CHROMOSOME 2Q; EPILEPSY; GENE MAPPING; GENE MUTATION; HUMAN; MOUSE; NERVE CELL EXCITABILITY; NONHUMAN; PRIORITY JOURNAL; REVIEW;

ANIMALIA;

EID: 0034024463     PISSN: 0959437X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0959-437X(00)00079-4     Document Type: Review

References (55)

1. Biervert C., Schroeder B.C., Kubisch C., Berkovic S.F., Propping P., Jentsch T.J., Steinlein O.K. A potassium channel mutation in neonatal human epilepsy. Science. 279:1998;403-436.
2. Singh N.A., Charlier C., Stauffer D., DuPont B.R., Leach R.J., Melis R., Ronen G.M., Bjerre I., Quattlebaum T., Murphy J.V.et al. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet. 18:1998;25-29.
3. Charlier C., Singh N.A., Ryan S.G., Lewis T.B., Reus B.E., Leach R.J., Leppert M. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet. 18:1998;53-55.
4. Lerche H., Biervert C., Alekov A.K., Schleithoff L., Lindner M., Klingler W., Bretschneider F., Mitrovic N., Jurkat-Rott K., Lehmann-Horn F., Steinlein O.K. A reduced K+ current due to a novel mutation in KCNQ2 causes neonatal convulsions. Ann Neurol. 46:1999;305-312. A frame-shifting mutation at codon 838, which changes the last seven amino acids of the KCNQ2 gene, is observed in a family with benign familial neonatal convulsions. The electrophysiological data, showing a profound reduction of the potassium current by this mutation, point to an as yet unknown function of the distal KCNQ2 carboxyl terminus in regulating channel expression.
5. Wang H.S., Pan Z., Shi W., Brown B.S., Wymore R.S., Cohen I.S., Dixon J.E., McKinnon D. KCNQ2 and KCNQ3 potassium channel subunits: molecular correlates of the M-channel. Science. 282:1998;1890-1893.
6. Schroeder B.C., Kubisch C., Stein V., Jentsch T.J. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature. 396:1998;687-690.
7. Yang W.P., Levesque P.C., Little W.A., Conder M.L., Ramakrishnan P., Neubauer M.G., Blanar M.A. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy. J Biol Chem. 273:1998;19419-19423.
8. Biervert C., Steinlein O.K. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions. Hum Genet. 104:1999;234-240.
9. Steinlein O.K., Stoodt J., Biervert C., Janz D., Sander T. The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy. Neuroreport. 10:1999;1163-1166.
10. Selyanko A.A., Hadley J.K., Wood I.C., Abogadie F.C., Delmas P., Buckley N.J., London B., Brown D.A. Two types of K(+) channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell. J Neurosci. 19:1999;7742-7756.
11. Meves H., Schwarz J.R., Wulfsen I. Separation of M-like current and ERG current in NG108-15 cells. Br J Pharmacol. 127:1999;1213-1223.
12. Smart S.L., Lopantsev V., Zhang C.L., Robbins C.A., Wang H., Chiu S.Y., Schwartzkroin P.A., Messing A., Tempel B.L. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron. 20:1998;809-819.
13. Rho J.M., Szot P., Tempel B.L., Schwartzkroin P.A. Developmental seizure susceptibility of Kv1.1 potassium channel knockout mice. Dev Neurosci. 21:1999;320-327.
14. Zuberi S.M., Eunson L.H., Spauschus A., De Silva R., Tolmie J., Wood N.W., McWilliam R.C., Stephenson J.P., Kullmann D.M., Hanna M.G. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain. 122:1999;817-825.
15. Spauschus A., Eunson L., Hanna M.G., Kullmann D.M. Functional characterization of a novel mutation in KCNA1 in episodic ataxia type 1 associated with epilepsy. Ann NY Acad Sci. 868:1999;442-446.
16. D'Adamo M.C., 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. 13:1999;1335-1345.
17. Wallace R.H., Wang D.W., Singh R., Scheffer I.E., George A.L. Jr., Phillips H.A., Saar K., Reis A., Johnson E.W., Sutherland G.R.et al. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet. 19:1998;366-370.
18. Baulac S., Gourfinkel-An I., Picard F., Rosenberg-Bourgin M., Prud'homme J.F., Baulac M., Brice A., LeGuern E. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33. Am J Hum Genet. 65:1999;1078-1085.
19. Moulard B., Guipponi M., Chaigne D., Mouthon D., Buresi C., Malafosse A. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33. Am J Hum Genet. 65:1999;1396-1400.
20. Peiffer A., Thompson J., Charlier C., Otterud B., Varvil T., Pappas C., Barnitz C., Gruenthal K., Kuhn R., Leppert M. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24. Ann Neurol. 46:1999;671-678.
21. Hartmann H.A., Colom L.V., Sutherland M.L., Noebels J.L. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat Neurosci. 2:1999;593-595. A gene responsible for prolonged QT syndrome and fatal cardiac arrythmia is expressed in brain regions with a low threshold for epilepsy.
22. Burgess D.L., Noebels J.L. Voltage-dependent calcium channel mutations in neurological disease. Ann NY Acad Sci. 868:1999;199-212.
23. Barclay J., Rees M. Mouse models of spike-wave epilepsy. Epilepsia. 40(Suppl 3):1999;17-22.
24. Lorenzon N.M., Lutz C.M., Frankel W.N., Beam K.G. Altered calcium channel currents in Purkinje cells of the neurological mutant mouse leaner. J Neurosci. 18:1998;4482-4489.
25. Dove L.S., Abbott L.C., Griffith W.H. Whole-cell and single-channel analysis of P-type calcium currents in cerebellar Purkinje cells of leaner mutant mice. J Neurosci. 18:1998;7687-7699.
26. Wakamori M., Yamazaki K., Matsunodaira H., Teramoto T., Tanaka I., Niidome T., Sawada K., Nishizawa Y., Sekiguchi N., Mori E.et al. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J Biol Chem. 273:1998;34857-34867.
27. ••].
28. McEnery M.W., Copeland T.D., Vance C.L. Altered expression and assembly of N-type calcium channel alpha1B and beta subunits in epileptic lethargic (lh/lh) mouse. J Biol Chem. 273:1998;21435-21438.
29. Qian J., Noebels J.L. Presynaptic Ca2+ influx at a mouse central synapse with Ca2+ channel subunit mutations. J Neuroscience. 20:2000;163-170. N-type calcium currents preserve synaptic transmission at hippocampal synapses when calcium entry through mutant P/Q-type channels is lost.
30. Huntsman M.M., Porcello D.M., Homanics G.E., DeLorey T.M., Huguenard J.R. Reciprocal inhibitory connections and network synchrony in the mammalian thalamus. Science. 283:1999;541-543.
31. Ayata C., Shimizu-Sasamata M., Lo E.H., Noebels J.L., Moskowitz M.A. Impaired neurotransmitter release and elevated threshold for cortical spreading depression in mice with mutations in the α1A subunit of P/Q type Ca2+ channels. Neuroscience. 95:2000;639-645.
32. Caddick S.J., Wang C., Fletcher C.F., Jenkins N.A., Copeland N.G., Hosford D.A. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(lh)) and tottering (Cacna1atg) mouse thalami. J Neurophysiol. 81:1999;2066-2074.
33. Zhang C.L., Messing A., Chiu S.Y. Specific alteration of spontaneous GABAergic inhibition in cerebellar purkinje cells in mice lacking the potassium channel Kv1.1. J Neurosci. 19:1999;2852-2864.
34. Plaster N.M., Uyama E., Uchino M., Ikeda T., Flanigan K.M., Kondo I., Ptacek L.J. Genetic localization of the familial adult myoclonic epilepsy (FAME) gene to chromosome 8q24. Neurology. 53:1999;1180-1183.
35. Mikami M., Yasuda T., Terao A., Nakamura M., Ueno S., Tanabe H., Tanaka T., Onuma T., Goto Y., Kaneko S., Sano A. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Am J Hum Genet. 65:1999;745-751.
36. Durner M., Zhou G., Fu D., Abreu P., Shinnar S., Resor S.R., Moshe S.L., Rosenbaum D., Cohen J., Harden C.et al. Evidence for linkage of adolescent-onset idiopathic generalized epilepsies to chromosome 8 and genetic heterogeneity. Am J Hum Genet. 64:1999;1411-1419.
37. Ballabio A., Carrozzo R., Casari G. Autosomal recessive rolandic epilepsy with paroxysmal exercise-induced dystonia and writer's cramp: delineation of the syndrome and gene mapping to chromosome 16p12-11.2. Ann Neurol. 45:1999;344-352. The authors describe a new autosomal recessive syndrome in which the patients are affected by Rolandic-type motor seizures, writers cramp (both right-handed) and exercise-induced dystonia. Genetic analysis suggests a possible genetic link to autosomal dominant infantile convulsions with paroxysmal choreoathethosis on chromosome 16. Ion channels are candidate genes for these syndromes, in which defined epileptic syndromes are combined with other paroxysmal neurological disorders that are expressed in different tissues.
38. Black J.L. 3rd, Lennon V.A. Identification and cloning of putative human neuronal voltage-gated calcium channel gamma-2 and gamma-3 subunits: neurologic implications. Mayo Clin Proc. 74:1999;357-361.
39. Burgess D.L., Davis C.F., Gefrides L.A., Noebels J.L. Identification of three novel Ca(2+) channel gamma subunit genes reveals molecular diversification by tandem and chromosome duplication. Genome Res. 12:1999;1204-1213.
40. Letts V.A., Felix R., Biddlecome G.H., Arikkath J., Mahaffey C.L., Valenzuela A., Bartlett F.S. II, Mori Y., Campbell K.P., Frankel W.N. The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat Genet. 19:1998;340-347.
41. Burgess D.L., Matsuura T., Ashizawa T., Noebels J.L. Genetic localization of the Ca2+ channel gene CACNG2 near SCA10 on chromosome 22q13. Epilepsia. 41:2000;24-27.
42. Lee J.H., Daud A.N., Cribbs L.L., Lacerda A.E., Pereverzev A., Klockner U., Schneider T., Perez-Reyes E. Cloning and expression of a novel member of the low voltage-activated T-type calcium channel family. J Neurosci. 19:1999;1912-1921.
43. Perez-Reyes E., Lee J.H., Cribbs L.L. Molecular characterization of two members of the T-type calcium channel family. Ann NY Acad Sci. 868:1999;131-143. Channel subunits have now been cloned that are responsible for the low-threshold calcium currents important in the generation of thalamocortical oscillations.
44. Mody I. Synaptic plasticity in kindling. Adv Neurol. 79:1999;631-643.
45. Vigues S., Gastaldi M., Chabret C., Massacrier A., Cau P., Valmier J. Regulation of calcium channel alpha(1A) subunit splice variant mRNAs in kainate-induced temporal lobe epilepsy. Neurobiol Dis. 4:1999;288-301.
46. Bernstein G.M., Mendonca A., Wadia J., Burnham W.M., Jones O.T. Kindling induces an asymmetric enhancement of N-type Ca2+ channel density in the dendritic fields of the rat hippocampus. Neurosci Lett. 268:1999;155-158.
47. Lie A.A., Blumcke I., Volsen S.G., Wiestler O.D., Elger C.E., Beck H. Distribution of voltage dependent calcium channel beta subunits in the hippocampus of patients with temporal lobe epilepsy. Neuroscience. 93:1999;449-456. Voltage-dependent calcium channels are formed by one of several different pore-forming α subunits interacting with smaller β, γ, ανδ subunits. These subunits are important as modifiers of the biophysical and pharmacological channel properties. Interestingly, the expression pattern of the regulatory β subunit differs between the hippocampi of patients with chronic temporal lobe epilepsy and controls, implicating an altered function of voltage-dependent calcium channels which might contribute to hyperexcitability.
48. Beck H., Steffens R., Heinemann U., Elger C.E. Ca(2+)-dependent inactivation of high-threshold Ca(2+) currents in hippocampal granule cells of patients with chronic temporal lobe epilepsy. J Neurophysiol. 82:1999;946-954.
49. Steinlein O. The genetic basis of epilepsy: mutant alleles of ligand and voltage gated ion channels. Neuroscientist. 5:1999;295-301.
50. Leppert M., Singh N. Benign familial neonatal epilepsy with mutations in two potassium channel genes. Curr Opin Neurol. 12:1999;143-147.
51. Burgess D.L., Noebels J.L. Single gene defects in mice: the role of voltage-dependent calcium channels in absence models. Epilepsy Res. 36:1999;111-122.
52. Lehmann-Horn F., Jurkat-Rott K. Voltage-gated ion channels and hereditary disease. Physiol Rev. 79:1999;1317-1372.
53. Pongs O. Voltage-gated potassium channels: from hyperexcitability to excitement. FEBS Lett. 452:1999;31-35.
54. Cooper E.C., Jan L.Y. Ion channel genes and human neurological disease: recent progress, prospects, and challenges. Proc Natl Acad Sci USA. 96:1999;4759-4766.
55. Escayg A., MacDonald B.T., Meisler M.H., Baulac S., Huberfeld G., An-Gourfinkel I., Brice A., LeGuern E., Moulard B., Chaigne D.et al. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+2. Nat Genet. 24:2000;343-345.