Epilepsy genes: The link between molecular dysfunction and pathophysiology

Mental Retardation and Developmental Disabilities Research Reviews

Volumn 6, Issue 4, 2000, Pages 281-292

  Stafstrom, Carl E ^a,c   Tempel, Bruce L ^b  

^a UNIVERSITY OF WISCONSIN MADISON   (United States)

^b UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^c UNIVERSITY OF WISCONSIN SCHOOL OF MEDICINE AND PUBLIC HEALTH   (United States)

Author keywords

Acetylcholine receptor; Epilepsy; Genetics; Pathophysiology; Potassium channel; Sodium channel

Indexed keywords

ION CHANNEL;

ARTICLE; DISEASE ASSOCIATION; EPILEPSY; FEBRILE CONVULSION; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; HAPPY PUPPET SYNDROME; HUMAN; MYOCLONUS EPILEPSY; PATHOPHYSIOLOGY; PRIORITY JOURNAL;

ANIMALS; CAUSALITY; CHROMOSOME MAPPING; ENERGY METABOLISM; EPILEPSY; HUMANS; ION CHANNELS; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; NEURONS; RECEPTORS, NEUROTRANSMITTER;

EID: 0033669669     PISSN: 10804013     EISSN: None     Source Type: Journal    
DOI: 10.1002/1098-2779(2000)6:4<281::AID-MRDD7>3.0.CO;2-9     Document Type: Article

References (122)

1. Nicotinic receptor activation in human cerebral cortical interneurons: A mechanism for inhibition and disinhibition of neuronal networks
2. Ictal EEG findings in an infant with benign familial neonatal convulsions
3. 'Puppet' children: A report on three cases
4. Corticotropin-releasing hormone is a rapid and potent convulsant in the infant rat
5. International Union of Pharmacology XV: Subtypes of gamma-amino-butyric acid A receptors: Classification on the basis of subunit structure and receptor function
6. Epilepsies with single gene inheritance
7. Genetics of human partial epilepsy
8. Febrile seizures: Genetics and relationship to other epilepsy syndromes
9. Progressive myoclonic epilepsies: Clinical and genetic aspects
10. Epilepsies in twins: Genetics of the major epilepsy syndromes
11. Neuronal nicotinic acetylcholine receptors: Their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy
12. Nicotinic receptor: A prototype of allosteric ligand-gated ion channels and its possible implications in epilepsy
13. A potassium channel mutation in neonatal human epilepsy
14. The EEG in early diagnosis of the Angelman (Happy Puppet) syndrome
15. + conductances with complementary functions in postsynaptic integration at a central auditory synapse
16. Episodic ataxia/myokymia syndrome is associated with point mutations in the human potassium channel gene KCNA1
17. Single gene defects in mice: The role of voltage-dependent calcium channels in absence models
18. 2+ channel subunit gene Cchb4 is associated with ataxia and seizures in the lethargic (lh) mouse
19. 2+ channel γ subunit genes reveals molecular diversification by tandem and chromosome duplication
20. A candidate model for Angelman syndrome in the mouse
21. Structure and function of voltage-gated ion channels
22. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
23. Febrile seizures in the developing brain result in persistent modification of neuronal excitabitity in limbic circuits
24. Homozygous deletion in KVLQT1 associated with Jervell and Lange-Nielsen syndrome
25. Mitochondrial DNA mutations and mitochondrial dysfunction in epilepsy
26. + channels
27. Proposal for revised classification of epilepsies and epilepsy syndromes
28. Mice lacking the β3 subunit of the GABA-A receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome
29. GABA and epileptogenesis: Comparing gabrb3 gene-deficient mice with Angelman syndrome in man
30. The genetic epilepsies
31. Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response
32. Absence epilepsy in tottering mutant mice is associated with calcium channel defects
33. Genetic basis of the human epilepsies
34. The incidence of epilepsy and unprovoked seizures in Rochester, Minnesota, 1935-1984
35. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
36. Electro-clinical signs of benign familial neonatal convulsions
37. + channel gene: Reduced body weight, impaired motor skill and muscle contraction, but no seizures
38. Mice devoid of gamma-aminobutyrate type A receptor beta3 subunit have epilepsy, cleft palate, and hypersensitive behavior
39. Calcium channelopathies in the central nervous system
40. Mutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation
41. Evidence for a novel gene for familial febrile convulsions, FEB2, linked to chromosome 19p in an extended family from the Midwest
42. UBE3A/E6-AP mutations cause Angelman syndrome
43. A deficit of functional GABA(A) receptors in neurons of β3 subunit knockout mice
44. Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus
45. 2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors
46. Evolution of epilepsy and EEG findings in Angelman syndrome
47. Angelman syndrome: AS phenotype correlated with specific EEG pattern may result in a high detection rate of mutations in the UBE3A gene
48. Dodecamer repeat expansion in cystatin B gene in progressive myoclonus epilepsy
49. Inhibition of sodium-potassium-ATPase: A potentially ubiquitous mechanism contributing to central nervous system neuropathology
50. Role of calcium ions in nicotinic facilitation of GABA release in mouse thalamus
51. + current due to a novel mutation in KCNQ2 causes neonatal convulsions
52. 2+-channel gamma subunit
53. Compromised mitochondrial function leads to increased cytosolic calcium and to activation of MAP kinases
54. Loss of calbinin-D28K immunoreactivity from dentate granule cells in human temporal lobe epilepsy
55. Febrile convulsions in selected large families: A single-major-locus mode of inheritance?
56. Mutation analysis of UBE3A in Angelman syndrome patients
57. Control of M-current
58. De novo truncating mutations in E6-AP ubiquitinproetin ligase gene (UBE3A) in Angelman syndrome
59. Cellular and molecular basis of epilepsy
60. Genetics of epilepsy
61. Protease inhibitor implicated
62. + channel function in the extracellular domain of the β1 subunit
63. Angelman syndrome: Correlations between epilepsy phenotypes and genotypes
64. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
65. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
66. Strange bedfellows? Protein degradation and neurological dysfunction
67. Imprinting in Prader-Willi and Angelman syndromes
68. Targeting epilepsy genes
69. Single-gene models of epilepsy
70. Progressive myoclonus epilepsy: Genetic and nosological aspects with special reference to 107 Finnish patients
71. Autosomal dominant nocturnal frontal lobe epilepsy: A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome
72. 2+ channel gene CACNL1A4
73. Myoclonus epilepsy with ragged red fibers: A Gto-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families
74. Mitochondrial events in the life and death of animal cells
75. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
76. Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1)
77. Progressive ataxia, myoclonic epilepsy and cerebellar apoptosis in cystatin B-deficient mice
78. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
79. Autosomal dominant nocturnal frontal lobe epilepsy: Genetic heteogeneity and evidence for a second locus at 15q24
80. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine
81. Benign familial neonatal convulsions and benign idiopathic convulsions
82. Evolution and diversity of mammalian sodium channel genes
83. Recent advances in the genetics of epilepsy: Insights from human and animal studies
84. Organization of cerebellar cortex secondary to deficit of granule cells in weaver mutant mice
85. Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes
86. Complex segregation analysis of febrile convulsions
87. Seizure characteristics in chromosome 20 benign familial neonatal convulsions
88. Ion channels and the genetic contribution to epilepsy
89. Generalized epilepsy with febrile seizures plus: A genetic disorder with heterogeneous clinical phenotypes
90. Autosomal dominant nocturnal frontal lobe epilepsy: A distinctive clinical disorder
91. Mitochondrial dysfunction is a primary event in glutamate neurotoxicity
92. Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation
93. + channels causes epilepsy
94. Origins of the epileptic state
95. Acetylcholine and epilepsy
96. The molecular genetic bases of the progressive myoclonic epilepsies
97. A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF)
98. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
99. Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
100. Deletion of the Kv1.1 potassium channel causes epilepsy in mice
101. Mechanisms of epilepsy in mental retardation: Insights from Angelman syndrome. Down syndrome and fragile X syndrome
102. Properties of persistent sodium conductance and calcium conductance of layer V neurons from cat sensorimotor cortex in vitro
103. The genetic basis of epilepsy: Mutant alleles of ligand- and voltage-gated ion channels
104. A missense mutation in the neuronal nicotinic receptor alpha4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
105. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
106. The voltage-gated potassium channel KCNQ2 and idiopathic generalized epilepsy
107. Glutamate-induced neuron death requires mitochondrial calcium uptake
108. Angelman syndrome in three siblings: Characteristic epileptic seizures and EEG abnormalities
109. Seizure and EEG patterns in Angelman's syndrome
110. Modulatory role of presynaptic nicotinic receptors in synaptic and non-synaptic chemical communication in the central nervous system
111. Mitochondrial DNA mutations in epilepsy and neurological disease
112. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
113. +-channel β1 subunit gene SCN1B
114. Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias
115. KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
116. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
117. Presynaptic nicotinic ACh receptors
118. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
119. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α-1A-voltage-dependent calcium channel
120. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy