Genetic abnormalities underlying familial epilepsy syndromes

Brain and Development

Volumn 24, Issue 4, 2002, Pages 211-222

  Hirose, Shinichi ^a   Okada, Motohiro ^b   Yamakawa, Kazuhiro ^c   Sugawara, Takashi ^c   Fukuma, Goryu ^a   Ito, Masatoshi ^d   Kaneko, Sunao ^b   Mitsudome, Akihisa ^a  

^a FUKUOKA UNIVERSITY   (Japan)

^b HIROSAKI UNIVERSITY   (Japan)

^c RIKEN BRAIN SCIENCE INSTITUTE   (Japan)

^d SHIGA MEDICAL CENTER FOR CHILDREN   (Japan)

Author keywords

Autosomal dominant nocturnal frontal lobe epilepsy; Benign familial neonatal convulsions; Channelopathy; Epilepsy; Febrile convulsions; Febrile seizures; Generalized epilepsy with febrile seizures plus

Indexed keywords

4 AMINOBUTYRIC ACID RECEPTOR; CALCIUM CHANNEL; NICOTINIC RECEPTOR; POTASSIUM CHANNEL; RECEPTOR SUBUNIT; SODIUM CHANNEL;

ATAXIA; AUTOSOMAL DOMINANT DISORDER; CHANNEL GATING; CONVULSION; EPILEPSY; FAMILIAL DISEASE; FEBRILE CONVULSION; FRONTAL LOBE EPILEPSY; GENE MUTATION; GENERALIZED EPILEPSY; HUMAN; MYOCLONUS EPILEPSY; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PATHOPHYSIOLOGY; REVIEW;

EPILEPSY, GENERALIZED; HUMANS; ION CHANNELS; PROTEIN CONFORMATION; SEIZURES, FEBRILE;

EID: 0036100806     PISSN: 03877604     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0387-7604(02)00056-6     Document Type: Review

References (84)

1. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder
2. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
3. Epilepsies with single gene inheritance
4. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q13.2
5. Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24
6. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1
7. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
8. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
9. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy
10. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family
11. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics
12. 2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors
13. Acetylcholine receptor channel imaged in the open state
14. Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor α4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes
15. New insights into the molecular and genetic mechanisms underlying idiopathic epilepsies
16. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy
17. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
18. Reduced antinociception in mice lacking neuronal nicotinic receptor subunits
19. Alternative mechanism for pathogenesis of an inherited epilepsy by a nicotinic AChR mutation
20. A de novo mutation in sporadic nocturnal frontal lobe epilepsy
21. ILAE classification of epilepsies: Its applicability and practical value of different diagnostic categories. Osservatorio Regionale per L'Epilessia (OREp), Lombardy
22. Benign familial neonatal convulsions and benign idiopathic neonatal convulsions
23. Benign familial neonatal convulsions linked to genetic markers on chromosome 20
24. Benign familial neonatal convulsions: Evidence for clinical and genetic heterogeneity
25. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
26. Genetic heterogeneity in benign familial neonatal convulsions: Identification of a new locus on chromosome 8q
27. A potassium channel mutation in neonatal human epilepsy
28. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family
29. A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns
30. + current in a vertebrate neurone
31. Kinetic and pharmacological properties of the M-current in rodent neuroblastoma × glioma hybrid cells
32. KCNQ2 and KCNQ3 potassium channel subunits: Molecular correlates of the M-channel
33. +channels causes epilepsy
34. Functional expression of two KvLQT1-related potassium channels responsible for an inherited idiopathic epilepsy
35. + channel subunit, Erg1 and KCNQ2/3, contribute to the M-like current in a mammalian neuronal cell
36. Structural and mutational analysis of KCNQ2, the major gene locus for benign familial neonatal convulsions
37. + current due to a novel mutation in KCNQ2 causes neonatal convulsions
38. The voltage gated potassium channel KCNQ2 and idiopathic generalized epilepsy
39. A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish family
40. Benign familial neonatal convulsions (BFNC) resulting from mutation of the KCNQ2 voltage sensor
41. A novel mutation of KCNQ3 (c.925T>C) in a Japanese family with benign familial neonatal convulsions (BFNC2)
42. + channels involved in epilepsy
43. Role of ER export signals in controlling surface potassium channel numbers
44. Disruption of the epilepsy KCNQ2 gene results in neural hyperexcitability
45. Impaired M-current and neuronal excitability
46. KCNQ5, a novel potassium channel broadly expressed in brain, mediates M-type currents
47. Molecular cloning and functional expression of KCNQ5, a potassium channel subunit that may contribute to neuronal M-current diversity
48. Significant evidence for linkage of febrile seizures to chromosome 5q14-q15
49. Hereditary febrile seizures: Phenotype and evidence for a chromosome 19p locus
50. A locus for febrile seizures (FEB3) maps to chromosome 2q23-24
51. Suggestion of a major gene for familial febrile convulsions mapping to 8q13-21
52. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes
53. Generalized epilepsy with febrile seizures plus: A common childhood-onset genetic epilepsy syndrome
54. A second locus for familial generalized epilepsy with febrile seizures plus maps to chromosome 2q21-q33
55. Identification of a new locus for generalized epilepsy with febrile seizures plus (GEFS+) on chromosome 2q24-q33
56. +)-channel α1 subunit gene, SCN1A
57. Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures
58. Neuronal sodium-channel α1-subunit mutations in generalized epilepsy with febrile seizures plus
59. +-channel β1 subunit gene SCN1B
60. Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS+ 2
61. A novel SCN1A mutation associated with generalized epilepsy with febrile seizures plus-and prevalence of variants in patients with epilepsy
62. A receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene
63. Nomenclature of voltage-gated sodium channels
64. A new locus for generalized epilepsy with febrile seizures plus maps to chromosome 2
65. V1.2 in a patient with febrile and afebrile seizures causes channel dysfunction
66. A gain-of-function mutation in the sodium channel gene Scn2a results in seizures and behavioral abnormalities
67. GABA itself promotes the developmental switch of neuronal GABAergic responses from excitation to inhibition
68. A receptor γ2-subunit in childhood absence epilepsy and febrile seizures
69. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis
70. Developmental analysis of the smellblind mutants: Evidence for the role of sodium channels in Drosophila development
71. A sodium-channel mutation causes isolated cardiac conduction disease
72. Complex segregation analysis of febrile convulsions
73. Dopaminergic modulation of sodium current in hippocampal neurons via cAMP-dependent phosphorylation of specific sites in the sodium channel α subunit
74. Muscarinic modulation of sodium current by activation of protein kinase C in rat hippocampal neurons
75. A sodium channel signaling complex: Modulation by associated receptor protein tyrosine phosphatase β
76. The effect of GABAergic system activity on hyperthermia-induced seizures in rats
77. A receptor subtypes
78. A receptor-chloride channels in rat Meynert neurons
79. A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
80. 4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia
81. De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy
82. Are some idiopathic epilepsies disorders of ion channels?: A working hypothesis
83. Recommendations for a nomenclature system for human gene mutations
84. A suggested nomenclature for designating mutations