The biology of epilepsy genes

Annual Review of Neuroscience

Volumn 26, Issue , 2003, Pages 599-625

  Noebels, Jeffrey L ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

Channel; Development; Membrane; Mutation; Network excitability; Synapse

Indexed keywords

4 AMINOBUTYRIC ACID; 4 AMINOBUTYRIC ACID A RECEPTOR; 4 AMINOBUTYRIC ACID B RECEPTOR; CALCIUM CHANNEL; CHOLINERGIC RECEPTOR; GLUTAMATE RECEPTOR; POTASSIUM CHANNEL; SEROTONIN RECEPTOR; SODIUM CHANNEL;

BRAIN CORTEX; BRAIN NERVE CELL; CELL FUNCTION; CELL MEMBRANE DEPOLARIZATION; CELL MIGRATION; CELL PROLIFERATION; CELL SIZE; CELL TYPE; CHANNEL GATING; CORTICAL SYNCHRONIZATION; DNA MODIFICATION; ELECTROENCEPHALOGRAM; EPILEPSY; EPILEPTOGENESIS; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE MUTATION; GENETIC VARIABILITY; HUMAN; INTERNEURON; MOLECULAR CLONING; MOLECULAR GENETICS; MUTATIONAL ANALYSIS; NERVE CELL DIFFERENTIATION; NERVE CELL EXCITABILITY; NERVE CELL NETWORK; NERVE CELL PLASTICITY; NEUROTRANSMISSION; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; REGULATORY MECHANISM; REVIEW; SEIZURE SUSCEPTIBILITY; SIGNAL TRANSDUCTION; SYNAPTIC INHIBITION; SYNAPTIC TRANSMISSION;

ANIMALS; BIOLOGY; CENTRAL NERVOUS SYSTEM DISEASES; EPILEPSY; GENETIC PREDISPOSITION TO DISEASE; HUMANS; NERVE NET; NEURAL PATHWAYS; SIGNAL TRANSDUCTION;

EID: 0042357395     PISSN: 0147006X     EISSN: None     Source Type: Book Series    
DOI: 10.1146/annurev.neuro.26.010302.081210     Document Type: Review

References (170)

1. Alekov AK, Rahman MM, Mitrovic N, Lehmann-Horn F, Lerche H. 2001. Enhanced inactivation and acceleration of activation of the sodium channel associated with epilepsy in man. Eur. J. Neurosci. 13:2171-76
2. Backman SA, Stambolic V, Suzuki A, Haight J, Elia A, et al. 2001. Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat. Genet. 29:396-403
3. Barclay J, Balaguero N, Mione M, Ackerman SL, Letts VA, et al. 2001. Ducky mouse phenotype of epilepsy and ataxia is associated with mutations in the Cacna2d2 gene and decreased calcium channel current in cerebellar Purkinje cells. J. Neurosci. 21:6095-104
4. Baroudi G, Acharfi S, Larouche C, Chahine M. 2002. Expression and intracellular locali-break zation of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. Circ. Res. 90:E11-16
5. Battaglia G, Pagliardini S, Ferrario A, Gardoni F, Tassi L, et al. 2002. AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia. Epilepsia 43 (Suppl. 5):209-16
6. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, et al. 2001. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat. Genet. 28:46-48
7. Bernasconi A, Martinez V, Rosa-Neto P, D'Agostino D, Bernasconi N, et al. 2001. Surgical resection for intractable epilepsy in "double cortex" syndrome yields inadequate results. Epilepsia 42:1124-29
8. Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, et al. 2002. How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43(Suppl. 5):112-22
9. Bianchi MT, Song L, Zhang H, Macdonald RL. 2002. Two different mechanisms of disinhibition produced by GABAA receptor mutations linked to epilepsy in humans. J. Neurosci. 22:5321-27
10. Billinton A, Ige AO, Bolam JP, White JH, Marshall FH, et al. 2001. Advances in the molecular understanding of GABA(B) receptors. Trends Neurosci. 24:277-82
11. Bock JB, Matern HT, Peden AA, Scheller RH. 2001. A genomic perspective on membrane compartment organization. Nature 409:839-41
12. Bothwell S, Meredith GE, Phillips J, Staunton H, Doherty C, et al. 2001. Neuronal hypertrophy in the neocortex of patients with temporal lobe epilepsy. J. Neurosci. 21:4789-800
13. Brennan TJ, Seeley WW, Kilgard M, Schreiner CE, Tecott LH. 1997. Sound-induced seizures in serotonin 5-HT2c receptor mutant mice. Nat. Genet. 16:387-90
14. Brewster A, Bender RA, Chen Y, Dube C, Eghbal-Ahmadi M, et al. 2002. Developmental febrile seizures modulate hippocampal gene expression of hyperpolarization-activated channels in an isoform- and cell-specific manner. J. Neurosci. 22:4591-99
15. Brooks-Kayal AR, Shumate MD, Jin H, Rikhter TY, Coulter DA. 1998. Selective changes in single cell GABA(A) receptor subunit expression and function in temporal lobe epilepsy. Nat. Med. 4:1166-72
16. Brusa R, Zimmermann F, Koh DS, Feldmeyer D, Gass P, et al. 1995. Early-onset epilepsy and postnatal lethality associated with an editing-deficient GluR-B allele in mice. Science 270:1677-80
17. Burgess DL, Biddlecome GH, McDonough SI, Diaz ME, Zilinski CA, et al. 1999. Beta subunit reshuffling modifies N- and P/Q-type Ca2+ channel subunit compositions in lethargic mouse brain. Mol. Cell Neurosci. 13:293-311
18. Burgess DL, Gefrides LA, Foreman PJ, Noebels JL. 2001. A cluster of three novel Ca2+ channel gamma subunit genes on chromosome 19q13.4: evolution and expression profile of the gamma subunit gene family. Genomics 71:339-50
19. Burgess DL, Jones JM, Meisler MH, Noebels JL. 1997. Mutation of the Ca2+ channel beta subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (1h) mouse. Cell 88:385-92
20. Burgess DL, Noebels JL. 1999. Voltage-dependent calcium channel mutations in neurological disease. Ann. NY Acad. Sci. 868:199-212
21. Butler LS, Silva AJ, Abeliovich A, Watanabe Y, Tonegawa S, et al. 1995. Limbic epilepsy in transgenic mice carrying a Ca2+/calmodulin-dependent kinase II alpha-subunit mutation. Proc. Natl. Acad. Sci. USA 92:6852-55
22. Caddick SJ, Wang C, Fletcher CF, Jenkins NA, Copeland NG, et al. 1999. Excitatory but not inhibitory synaptic transmission is reduced in lethargic (Cacnb4(1h)) and tottering (Cacna1atg) mouse thalami. J. Neurophysiol. 81:2066-74
23. Carr DB, Cooper DC, Ulrich SL, Spruston N, Surmeier DJ. 2002. Serotonin receptor activation inhibits sodium current and dendritic excitability in prefrontal cortex via a protein kinase C-dependent mechanism. J. Neurosci. 22:6846-55
24. Castillo PE, Schoch S, Schmitz F, Sudhof TC, Malenka RC. 2002. RIM1alpha is required for presynaptic long-term potentiation. Nature 415:327-30
25. Castro PA, Cooper EC, Lowenstein DH, Baraban SC. 2001. Hippocampal heterotopia lack functional Kv4.2 potassium channels in the methylazoxymethanol model of cortical malformations and epilepsy. J. Neurosci. 21:6626-34
26. Catalano SM, Shatz CJ. 1998. Activity-dependent cortical target selection by thalamic axons. Science 281:559-62
27. Chae T, Kwon YT, Bronson R, Dikkes P, Li E, et al. 1997. Mice lacking p35, a neuronal specific activator of Cdk5, display cortical lamination defects, seizures, and adult lethality. Neuron 18:29-42
28. Chen L, Chetkovich DM, Petralia RS, Sweeney NT, Kawasaki Y, et al. 2000a. Stargazin regulates synaptic targeting of AMPA receptors by two distinct mechanisms. Nature 408:936-43
29. Chen ZF, Schottler F, Bertram E, Gall CM, Anzivino MJ, et al. 2000b. Distribution and initiation of seizure activity in a rat brain with subcortical band heterotopia. Epilepsia 41:493-501
30. Christophe E, Roebuck A, Staiger JF, Lavery DJ, Charpak S, et al. 2002. Two types of nicotinic receptors mediate an excitation of neocortical layer I interneurons. J. Neurophysiol. 88:1318-27
31. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, et al. 2001. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am. J. Hum. Genet. 68:1327-32
32. Cole TB, Robbins CA, Wenzel HJ, Schwartzkroin PA, Palmiter RD. 2000. Seizures and neuronal damage in mice lacking vesicular zinc. Epilepsy Res. 39:153-69
33. Collinson N, Kuenzi FM, Jarolimek W, Maubach KA, Cothliff R, et al. 2002. Enhanced learning and memory and altered GABAergic synaptic transmission in mice lacking the alpha 5 subunit of the GABAA receptor. J. Neurosci. 22:5572-80
34. Cooper EC, Harrington E, Jan YN, Jan LY. 2001. M channel KCNQ2 subunits are localized to key sites for control of neuronal network oscillations and synchronization in mouse brain. J. Neurosci. 21:9529-40
35. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, et al. 2002. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat. Genet. 31:184-89
36. Crowder KM, Gunther JM, Jones TA, Hale BD, Zhang HZ, et al. 1999. Abnormal neurotransmission in mice lacking synaptic vesicle protein 2A (SV2A). Proc. Natl. Acad. Sci. USA 96:15,268-73
37. Crunelli V, Leresche N. 2002. Childhood absence epilepsy: genes, channels, neurons and networks. Nat. Rev. Neurosci. 3:371-82
38. Culiat CT, Stubbs LJ, Montgomery CS, Russell LB, Rinchik EM. 1994. Phenotypic consequences of deletion of the gamma 3, alpha 5, or beta 3 subunit of the type A gamma-aminobutyric acid receptor in mice. Proc. Natl. Acad. Sci. USA 91:2815-18
39. DeLorey TM, Handforth A, Anagnostaras SG, Homanics GE, Minassian BA, et al. 1998. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. J. Neurosci. 18:8505-14
40. Di Cunto F, Imarisio S, Hirsch E, Broccoli V, Bulfone A, et al. 2000. Defective neurogenesis in citron kinase knockout mice by altered cytokinesis and massive apoptosis. Neuron 28:115-27
41. Di Paolo G, Sankaranarayanan S, Wenk MR, Daniell L, Perucco E, et al. 2002. Decreased synaptic vesicle recycling efficiency and cognitive deficits in amphiphysin 1 knockout mice. Neuron 33:789-804
42. Di Pasquale E, Keegan KD, Noebels JL. 1997. Increased excitability and inward rectification in layer V cortical pyramidal neurons in the epileptic mutant mouse Stargazer. J. Neurophysiol. 77:621-31
43. Erickson JC, Clegg KE, Palmiter RD. 1996. Sensitivity to leptin and susceptibility to seizures of mice lacking neuropeptide Y. Nature 381:415-21
44. Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, et al. 2000. Coding and noncoding variation of the human calcium-channel beta4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am. J. Hum. Genet. 66:1531-39
45. Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, et al. 2000. Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability. Ann. Neurol. 48:647-56
46. Feng J, Chi P, Blanpied TA, Xu Y, Magarinos AM, et al. 2002. Regulation of neurotransmitter release by synapsin III. J. Neurosci. 22:4372-80
47. Feng Y, Walsh CA. 2001. Protein-protein interactions, cytoskeletal regulation and neuronal migration. Nat. Rev. Neurosci. 2:408-16
48. Fernandez-Chacon R, Konigstorfer A, Gerber SH, Garcia J, Matos MF, et al. 2001. Synaptotagmin I functions as a calcium regulator of release probability. Nature 410:41-49
49. Fox JW, Lamperti ED, Eksioglu YZ, Hong SE, Feng Y, et al. 1998. Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. Neuron 21:1315-25
50. Frankel WN, Taylor L, Beyer B, Tempel BL, White HS. 2001. Electroconvulsive thresholds of inbred mouse strains. Genomics 74:306-12
51. Galvan CD, Hrachovy RA, Smith KL, Swann JW. 2000. Blockade of neuronal activity during hippocampal development produces a chronic focal epilepsy in the rat. J. Neurosci. 20:2904-16
52. Gamabardella A, Manna I, Chifari R, Labate A, La Ruissa A, et al. 2002. Gaba B receptor I polymorphism (G1465A) is associated with temporal lobe epilepsy. Neurology. In press
53. Golshani P, Truong H, Jones EG. 1997. Developmental expression of GABA(A) receptor subunit and GAD genes in mouse somatosensory barrel cortex. J. Comp. Neurol. 383:199-219
54. Gong B, Rhodes KJ, Bekele-Arcuri Z, Trimmer JS. 1999. Type I and type II Na(+) channel alpha-subunit polypeptides exhibit distinct spatial and temporal patterning, and association with auxiliary subunits in rat brain. J. Comp. Neurol. 412:342-52
55. Grieco TM, Afshari FS, Raman IM. 2002. A role for phosphorylation in the maintenance of resurgent sodium current in cerebellar purkinje neurons. J. Neurosci. 22:3100-7
56. Gunther U, Benson J, Benke D, Fritschy JM, Reyes G, et al. 1995. Benzodiazepine-insensitive mice generated by targeted disruption of the gamma 2 subunit gene of gamma-aminobutyric acid type A receptors. Proc. Natl. Acad. Sci. USA 92:7749-53
57. Gupta A, Wang Y, Markram H. 2000. Organizing principles for a diversity of GABAergic interneurons and synapses in the neocortex. Science 287:273-78
58. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, et al. 2002. Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am. J. Hum. Genet. 70:530-36
59. Hartmann HA, Colom LV, Sutherland ML, Noebels JL. 1999. Selective localization of cardiac SCN5A sodium channels in limbic regions of rat brain. Nat. Neurosci. 2:593-95
60. Hashimoto K, Fukaya M, Qiao X, Sakimura K, Watanabe M, et al. 1999. Impairment of AMPA receptor function in cerebellar granule cells of ataxic mutant mouse stargazer. J. Neurosci. 19:6027-36
61. Heilstedt HA, Burgess DL, Anderson AE, Chedrawi A, Tharp B, et al. 2001. Loss of the potassium channel beta-subunit gene, KC-NAB2, is associated with epilepsy in patients with 1p36 deletion syndrome. Epilepsia 42:1103-11
62. Heintz N. 2001. BAC to the future: the use of bac transgenic mice for neuroscience research. Nat. Rev. Neurosci. 2:861-70
63. Higuchi M, Maas S, Single FN, Hartner J, Rozov A, et al. 2000. Point mutation in an AMPA receptor gene rescues lethality in mice deficient in the RNA-editing enzyme ADAR2. Nature 406:78-81
64. Hogema BM, Gupta M, Senephansiri H, Burlingame TG, Taylor M, et al. 2001. Pharmacologic rescue of lethal seizures in mice deficient in succinate semialdehyde dehydrogenase. Nat. Genet. 29:212-16
65. Holmes GL, Khazipov R, Ben-Ari Y. 2002. New concepts in neonatal seizures. Neuroreport 13:A3-8
66. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, et al. 2000. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations. Nat. Genet. 26:93-96
67. Iwasaki S, Momiyama A, Uchitel OD, Takahashi T. 2000. Developmental changes in calcium channel types mediating central synaptic transmission. J. Neurosci. 20:59-65
68. Janz R, Goda Y, Geppert M, Missler M, Sudhof TC. 1999. SV2A and SV2B function as redundant Ca2+ regulators in neurotransmitter release. Neuron 24:1003-16
69. Jentsch TJ. 2000. Neuronal KCNQ potassium channels: physiology and role in disease. Nat. Rev. 1:21-30
70. Jiang YH, Armstrong D, Albrecht U, Atkins CM, Noebels JL, et al. 1998. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation. Neuron 21:799-811
71. Johnston MV, Jeon O, Pevsner J, Blue ME, Naidu SN. 2001. Neurobiology of Rett syndrome: a genetic disorder of synapse development. Brain Dev. 23:S206-13
72. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, et al. 2001. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358:801-7
73. Jun K, Piedras-Renteria ES, Smith SM, Wheeler DB, Lee SB, et al. 1999. Ablation of P/Q-type Ca(2+) channel currents, altered synaptic transmission, and progressive ataxia in mice lacking the alpha(1A)-subunit. Proc. Natl. Acad. Sci. USA 96:15,245-50
74. Jurkat-Rott K, Mitrovic N, Hang C, Kouzmekine A, Laizzo P, et al. 2000. Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current. Proc. Natl. Acad. Sci. USA 97:9549-54
75. Kananura C, Haug K, Sander T, Runge U, Gu W, et al. 2002. A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch. Neurol. 59:1137-41
76. Kang MG, Chen CC, Felix R, Letts VA, Frankel WN, et al. 2001. Biochemical and biophysical evidence for gamma 2 subunit association with neuronal voltage-activated Ca2+ channels. J. Biol. Chem. 276:32,917-24
77. Kantheti P, Qiao X, Diaz ME, Peden AA, Meyer GE, et al. 1998. Mutation in AP-3 delta in the mocha mouse links endosomal transport to storage deficiency in platelets, melanosomes, and synaptic vesicles. Neuron 21:111-22
78. Kash SF, Johnson RS, Tecott LH, Noebels JL, Mayfield RD, et al. 1997. Epilepsy in mice deficient in the 65-kDa isoform of glutamic acid decarboxylase. Proc. Natl. Acad. Sci. USA 94:14,060-65
79. Kawasaki F, Collins SC, Ordway RW. 2002. Synaptic calcium-channel function in Drosophila: analysis and transformation rescue of temperature-sensitive paralytic and lethal mutations of cacophony. J. Neurosci. 22:5856-64
80. Kim D, Song I, Keum S, Lee T, Jeong MJ, et al. 2001. Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha(1G) T-type Ca(2+) channels. Neuron 31:35-45
81. Kizhatil K, Wu YX, Sen A, Bennett V. 2002. A new activity of doublecortin in recognition of the phospho-FIGQY tyrosine in the cytoplasmic domain of neurofascin. J. Neurosci. 22:7948-58
82. Kralic JE, Korpi ER, O'Buckley TK, Homanics GE, Morrow AL. 2002. Molecular and pharmacological characterization of GABA(A) receptor alpha1 subunit knockout mice. J. Pharmacol. Exp. Ther. 302:1037-45
83. Kumar SS, Bacci A, Kharazia V, Huguenard JR. 2002. A developmental switch of AMPA receptor subunits in neocortical pyramidal neurons. J. Neurosci. 22:3005-15
84. Kwon CH, Zhu X, Zhang J, Knoop LL, Tharp R, et al. 2001. Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat. Genet. 29:404-11
85. Latchman DS. 2001. Transcription factors: bound to activate or repress. Trends Biochem. Sci. 26:211-13
86. Lau D, Vega-Saenz de Miera EC, Contreras D, Ozaita A, Harvey M, et al. 2000. Impaired fast-spiking, suppressed cortical inhibition, and increased susceptibility to seizures in mice lacking Kv3.2 K+ channel proteins. J. Neurosci. 20:9071-85
87. Leenders AG, Lopes da Silva FH, Ghijsen WE, Verhage M. 2001. Rab3a is involved in transport of synaptic vesicles to the active zone in mouse brain nerve terminals. Mol. Biol. Cell. 12:3095-102
88. Leenders AG, van den Maagdenberg AM, Lopes da Silva FH, Sheng ZH, Molenaar PC, et al. 2002. Neurotransmitter release from tottering mice nerve terminals with reduced expression of mutated P- and Q-type Ca2+-channels. Eur. J. Neurosci. 15:13-18
89. Leppert M, Singh N. 1999. Benign familial neonatal epilepsy with mutations in two potassium channel genes. Curr. Opin. Neurol. 12:143-47
90. Letts VA, Felix R, Biddlecome GH, Arikkath J, Mahaffey CL, et al. 1998. The mouse stargazer gene encodes a neuronal Ca2+-channel gamma subunit. Nat. Genet. 19:340-47
91. Liu M, Pleasure SJ, Collins AE, Noebels JL, Naya FJ, et al. 2000. Loss of BETA2/NeuroD leads to malformation of the dentate gyms and epilepsy. Proc. Natl. Acad. Sci. USA 97:865-70
92. Liu W, Seto J, Donovan G, Toth M. 2002. Jerky, a protein deficient in a mouse epilepsy model, is associated with translationally inactive mRNA in neurons. J. Neurosci. 22:176-82
93. Lossin C, Wang DW, Rhodes TH, Vanoye CG, George A. 2002. Molecular basis of an inherited epilepsy. Neuron 34:877-84
94. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, et al. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum. Mol. Genet. 8:1461-72
95. McCormack K, Connor JX, Zhou L, Ho LL, Ganetzky B, et al. 2002. Genetic analysis of the mammalian K+ channel beta subunit Kv-beta 2 (Kcnab2). J. Biol. Chem. 277:13,219-28
96. McCormick KA, Srinivasan J, White K, Scheuer T, Catterall WA. 1999. The extracellular domain of the beta 1 subunit is both necessary and sufficient for beta1-like modulation of sodium channel gating. J. Biol. Chem. 274:32,638-46
97. Miles R. 2000. Diversity in inhibition. Science 287:244-46
98. Moore T, Hecquet S, McLellann A, Ville D, Grid D, et al. 2001. Polymorphism analysis of JRK/JH8, the human homologue of mouse jerky, and description of a rare mutation in a case of CAE evolving to JME. Epilepsy Res. 46:157-67
99. Mori Y, Wakamori M, Oda S, Fletcher CF, Sekiguchi N, et al. 2000. Reduced voltage sensitivity of activation of P/Q-type Ca2+ channels is associated with the ataxic mouse mutation rolling Nagoya (tg(rol)). J. Neurosci. 20:5654-62
100. Murthy VN, Schikorski T, Stevens CF, Zhu Y. 2001. Inactivity produces increases in neurotransmitter release and synapse size. Neuron 32:673-82
101. Noebels JL. 1984. A single gene error of noradrenergic axon growth synchronizes central neurones. Nature 310:409-11
102. Noebels JL. 1996. Targeting epilepsy genes. Neuron 16:241-44
103. th ed.
104. Nusser Z, Kay LM, Laurent G, Homanics GE, Mody I. 2001. Disruption of GABA(A) receptors on GABAergic interneurons leads to increased oscillatory power in the olfactory bulb network. J. Neurophysiol. 86:2823-33
105. Oliva AA Jr, Jiang M, Lam T, Smith KL, Swann JW. 2000. Novel hippocampal interneuronal subtypes identified using transgenic mice that express green fluorescent protein in GABAergic interneurons. J. Neurosci. 20:3354-68
106. Peng Z, Hauer B, Mihalek RM, Homanics GE, Sieghart W, et al. 2002. GABA(A) receptor changes in delta subunit-deficient mice: altered expression of alpha4 and gamma2 subunits in the forebrain. J. Comp. Neurol. 446:179-97
107. Pinard J, Feydy A, Carlier R, Perez N, Pierot L, et al. 2000. Functional MRI in double cortex: functionality of heterotopia. Neurology 54:1531-33
108. Pirker S, Schwarzer C, Wieselthaler A, Sieghart W, Sperk G. 2000. GABA(A) receptors: immunocytochemical distribution of 13 subunits in the adult rat brain. Neuroscience 101:815-50
109. Planell-Cases R, Caprini M, Zhang J, Rockenstein EM, Rivera RR. 2000. Neuronal death and perinatal lethality in voltage-gated sodium channel alpha II deficient mice. Biophys. J. 78:2878-91
110. Polo-Parada L, Bose CM, Landmesser LT. 2001. Alterations in transmission, vesicle dynamics, and transmitter release machinery at NCAM-deficient neuromuscular junctions. Neuron 32:815-28
111. Powell EM, Campbell DB, Stanwood GD, Davis CD, Noebels JL, Levitt P. 2003. Genetic disruption of cortical interneuron development causes region- and GABA cell type-specific deficits, epilepsy, and behavioral dysfunction. J. Neurosci. 23:622-31
112. Powell EM, Mars WM, Levitt P. 2001. Hepatocyte growth factor/scatter factor is a motogen for interneurons migrating from the ventral to dorsal telencephalon. Neuron 30:79-89
113. Qian J, Noebels JL. 2000. Presynaptic Ca(2+) influx at a mouse central synapse with Ca(2+) channel subunit mutations. J. Neurosci. 20:163-70
114. Rea R, Spauschus A, Eunson LH, Hanna MG, Kullmann DM. 2002. Variable K(+) channel subunit dysfunction in inherited mutations of KCNA1. J. Physiol. 538:5-23
115. Reenan RA, Hanrahan CJ, Barry G. 2000. The mle(napts) RNA helicase mutation in drosophila results in a splicing catastrophe of the para Na+ channel transcript in a region of RNA editing. Neuron 25:139-49
116. Rho JM, Szot P, Tempel BL, Schwartzkroin PA. 1999. Developmental seizure susceptibility of kv1.1 potassium channel knockout mice. Dev. Neurosci. 21:320-27
117. Robertson KD, Wolffe AP. 2000. DNA methylation in health and disease. Nat. Rev. Genet. 1:11-19
118. Rogawski MA. 2000. KCNQ2/KCNQ3 K+ channels and the molecular pathogenesis of epilepsy: implications for therapy. Trends Neurosci. 23:393-98
119. Rosahl TW, Spillane D, Missler M, Herz J, Selig DK, et al. 1995. Essential functions of synapsins I and II in synaptic vesicle regulation. Nature 375:488-93
120. Rudy B, McBain CJ. 2001. Kv3 channels: voltage-gated K+ channels designed for high-frequency repetitive firing. Trends Neurosci. 24:517-26
121. Saganich MJ, Machado E, Rudy B. 2001. Differential expression of genes encoding subthreshold-operating voltage-gated K+ channels in brain. J. Neurosci. 21:4609-24
122. Sanchez RM, Koh S, Rio C, Wang C, Lamperti ED, et al. 2001. Decreased glutamate receptor 2 expression and enhanced epileptogenesis in immature rat hippocampus after perinatal hypoxia-induced seizures. J. Neurosci. 21:8154-63
123. Sancini G, Franceschetti S, Lavazza T, Panzica F, Cipelletti B, et al. 2001. Potentially epileptogenic dysfunction of conical NMDA- and GABA-mediated neurotransmission in Otx1 -/- mice. Eur. J. Neurosci. 14:1065-74
124. Schoch S, Deak F, Konigstorfer A, Mozhayeva M, Sara Y, et al. 2001. SNARE function analyzed in synaptobrevin/VAMP knockout mice. Science 294:1117-22
125. Schottler F, Fabiato H, Leland JM, Chang LY, Lotfi P, et al. 2001. Normotopic and heterotopic cortical representations of mystacial vibrissae in rats with subcortical band heterotopia. Neuroscience 108:217-35
126. Schroeder BC, Kubisch C, Stein V, Jentsch TJ. 1998. Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 K+ channels causes epilepsy. Nature 396:687-90
127. Schuler V, Luscher C, Blanchet C, Klix N, Sansig G, et al. 2001. Epilepsy, hyperalgesia, impaired memory, and loss of pre- and postsynaptic GABA(B) responses in mice lacking GABA(B(1)). Neuron 31:47-58
128. Seeburg PH. 2002. A-to-I editing: new and old sites, functions and speculations. Neuron 35:17-20
129. Sepkuty JP, Cohen AS, Eccles C, Rafiq A, Behar K, et al. 2002. A neuronal glutamate transporter contributes to neurotransmitter GABA synthesis and epilepsy. J. Neurosci. 22:6372-79
130. Shahbazian M, Young J, Yuva-Paylor L, Spencer C, Antalffy B, et al. 2002. Mice with truncated MeCP2 recapitulate many Rett syndrome features and display hyperacetylation of histone H3. Neuron 35:243-54
131. Smart SL, Lopantsev V, Zhang CL, Robbins CA, Wang H, et al. 1998. Deletion of the K(V)1.1 potassium channel causes epilepsy in mice. Neuron 20:809-19
132. Smith JS, Iannotti CA, Dargis P, Christian EP, Aiyar J. 2001. Differential expression of kcnq2 splice variants: implications to m current function during neuronal development. J. Neurosci. 21:1096-103
133. Sohal VS, Huntsman MM, Huguenard JR. 2000. Reciprocal inhibitory connections regulate the spatiotemporal properties of intrathalamic oscillations. J. Neurosci. 20:1735-45
134. Spampanato J, Escayg A, Meisler MH, Goldin AL. 2001. Functional effects of two voltage-gated sodium channel mutations that cause generalized epilepsy with febrile seizures plus type 2. J. Neurosci. 21:7481-90
135. Spreafico R, Tassi L, Colombo N, Bramerio M, Galli C, et al. 2000. Inhibitory circuits in human dysplastic tissue. Epilepsia 41 (Suppl. 6):S168-73
136. Stell BM, Mody I. 2002. Receptors with different affinities mediate phasic and tonic GABA(A) conductances in hippocampal neurons. J. Neurosci. 22:RC223
137. Stromme P, Mangelsdorf ME, Shaw MA, Lower KM, Lewis SM, et al. 2002. Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat. Genet. 30:441-45
138. Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, et al. 2001a. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 2857:703-5
139. Sugawara T, Tsurubuchi Y, Agarwala KL, Ito M, Fukuma G, et al. 2001b. A missense mutation of the Na+ channel alpha II subunit gene Na(v)1.2 in a patient with febrile and afebrile seizures causes channel dysfunction. Proc. Natl. Acad. Sci. USA 98:6384-89
140. Sun QQ, Huguenard JR, Prince DA. 2001. Neuropeptide Y receptors differentially modulate G-protein-activated inwardly rectifying K+ channels and high-voltage-activated Ca2+ channels in rat thalamic neurons. J. Physiol. 531:67-79
141. Sutherland ML, Williams SH, Abedi R, Overbeek PA, Pfaffinger PJ, et al. 1999. Overexpression of a Shaker-type potassium channel in mammalian central nervous system dysregulates native potassium channel gene expression. Proc. Natl. Acad. Sci. USA 96:2451-55
142. Taddese A, Bean BP. 2002. Subthreshold sodium current from rapidly inactivating sodium channels drives spontaneous firing of tuberomammillary neurons. Neuron 33:587-600
143. Tanaka K, Watase K, Manabe T, Yamada K, Watanabe M, et al. 1997. Epilepsy and exacerbation of brain injury in mice lacking the glutamate transporter GLT-1. Science 276:1699-702
144. Tansey EP, Chow A, Rudy B, McBain CJ. 2002. Developmental expression of potassium-channel subunit Kv3.2 within subpopulations of mouse hippocampal inhibitory interneurons. Hippocampus 12:137-48
145. Tecott LH, Sun LM, Akana SF, Strack AM, Lowenstein DH, et al. 1995. Eating disorder and epilepsy in mice lacking 5-HT2c serotonin receptors. Nature 374:542-46
146. Terada S, Tsujimoto T, Takei Y, Takahashi T, Hirokawa N. 1999. Impairment of inhibitory synaptic transmission in mice lacking synapsin I. J. Cell Biol. 145:1039-48
147. Thom M, Sisodiya SM, Lin WR, Cross H, Harding B. 2002. Inhibitory interneurons in focal cortical dysplasia and microdysgenesis. Neuropath. Appl. Neurobiol. 28:158
148. Tucker K. 2001. Methylated cytosine and the brain: a new base for neuroscience. Neuron 30:649-52
149. Tudor M, Akbarian S, Chen RZ, Jaenisch R. 2002. Transcriptional profiling of a mouse model for Rett syndrome reveals subtle transcriptional changes in the brain. Proc. Natl. Acad. Sci. USA 99:15,536-41
150. van Brederode JF, Rho JM, Cerne R, Tempel BL, Spain WJ. 2001. Evidence of altered inhibition in layer V pyramidal neurons from neocortex of Kcna1-null mice. Neuroscience 103:921-29
151. Vezzani A, Sperk G, Colmers WF. 1999. Neuropeptide Y: emerging evidence for a functional role in seizure modulation. Trends Neurosci. 22:25-30
152. Wakamori M, Yamazaki K, Matsunodaira H, Teramoto T, Tanaka I, et al. 1998. Single tottering mutations responsible for the neuropathic phenotype of the P-type calcium channel. J. Biol. Chem. 273:34,857-67
153. Walker D, De Waard M. 1998. Subunit interaction sites in voltage-dependent Ca2+ channels: role in channel function. Trends Neurosci. 21:148-54
154. Wallace RH, Marini C, Petrou S, Harkin LA, Bowser DN, et al. 2001. Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat. Genet. 28:49-52
155. Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, et al. 1998. Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat. Genet. 19:366-70
156. Wang H, Kunkel DD, Schwartzkroin PA, Tempel BL. 1994. Localization of Kv1.1 and Kv1.2, two K channel proteins, to synaptic terminals, somata, and dendrites in the mouse brain. J. Neurosci. 14:4588-99
157. Watanabe H, Nagata E, Kosakai A, Nakamura M, Yokoyama M, et al. 2000. Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability (homo dies, hets show lower ptx sensivitity). J. Neurochem. 75:28-33
158. Waymire KG, Mahuren JD, Jaje JM, Guilarte TR, Coburn SP, et al. 1995. Mice lacking tissue non-specific alkaline phosphatase die from seizures due to defective metabolism of vitamin B-6. Nat. Genet. 11:45-51
159. Wells JE, Porter JT, Agmon A. 2000. GABAergic inhibition suppresses paroxysmal network activity in the neonatal rodent hippocampus and neocortex. J. Neurosci. 20:8822-30
160. Wen H, Levitan IB. 2002. Calmodulin is an auxiliary subunit of KCNQ2/3 potassium channels. J. Neurosci. 22:7991-8001
161. Wenzel HJ, Robbins CA, Tsai LH, Schwartzkroin PA. 2001. Abnormal morphological and functional organization of the hippocampus in a p35 mutant model of cortical dysplasia associated with spontaneous seizures. J. Neurosci. 21:983-98
162. White R, Hua Y, Scheithauer B, Lynch DR, Henske EP, et al. 2001. Selective alterations in glutamate and GABA receptor subunit mRNA expression in dysplastic neurons and giant cells of cortical tubers. Ann. Neurol. 49:67-78
163. Windpassinger C, Kroisel PM, Wagner K, Petek E. 2002. The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression. Gene 292:25-31
164. Woo NS, Lu J, England R, McClellan R, Dufour S, et al. 2002. Hyperexcitability and epilepsy associated with disruption of the mouse neuronal-specific K-Cl cotransporter gene. Hippocampus 12(2):258-68
165. Wu X, Senechal K, Neshat MS, Whang YE, Sawyers CL. 1998. The PTEN/MMAC1 tumor suppressor phosphatase functions as a negative regulator of the phosphoinositide 3-kinase/Akt pathway. Proc. Natl. Acad. Sci. USA 95:15,587-91
166. Zhang CL, Messing A, Chiu SY. 1999. Specific alteration of spontaneous GABAergic inhibition in cerebellar purkinje cells in mice lacking the potassium channel Kv1.1. J. Neurosci. 19:2852-64
167. Zhang Y, Mori M, Burgess DL, Noebels JL. 2002. Mutations in high-voltage-activated calcium channel genes stimulate low-voltage-activated currents in mouse thalamic relay neurons. J. Neurosci. 22:6362-71
168. Zhou L, Zhang CL, Messing A, Chiu SY. 1998. Temperature-sensitive neuromuscular transmission in Kv1.1 null mice: role of potassium channels under the myelin sheath in young nerves. J. Neurosci. 18:7200-15
169. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, et al. 1999. 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 122:817-25
170. Zwingman TA, Neumann PE, Noebels JL, Herrup K. 2001. Rocker is a new variant of the voltage-dependent calcium channel gene Cacnala. J. Neurosci. 21:1169-78