How mutations in the nAChRs can cause ADNFLE epilepsy

Epilepsia

Volumn 43, Issue SUPPL. 5, 2002, Pages 112-122

  Bertrand, D ^a   Picard, F ^a   Le Hellard, S ^a,b   Weiland, S ^a   Favre, I ^a   Phillips, H ^c   Bertrand, S ^a   Berkovic, S F ^d,e   Malafosse, A ^b   Mulley, J ^f  

^a UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^b HUG Hôpital Belle Idée   (Switzerland)

^c WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e AUSTIN HEALTH   (Australia)

^f Center for Medical Genetics   (Australia)

Author keywords

ADNFLE; Epilepsy; Genetic; Nicotinic receptors; Structure function

Indexed keywords

NICOTINIC RECEPTOR;

CHANNEL GATING; CONFERENCE PAPER; EPILEPTOGENESIS; FRONTAL LOBE EPILEPSY; GENE EXPRESSION; GENE MUTATION; HUMAN; PRIORITY JOURNAL; PYRAMIDAL NERVE CELL;

ACETYLCHOLINE; ALLELES; ANIMALS; CIRCADIAN RHYTHM; ELECTRIC CONDUCTIVITY; EPILEPSY, TEMPORAL LOBE; GENES, DOMINANT; HUMANS; MUTATION; NERVE NET; OOCYTES; RECEPTORS, NICOTINIC; XENOPUS;

EID: 0036337572     PISSN: 00139580     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1528-1157.43.s.5.16.x     Document Type: Conference Paper

References (29)

1. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
2. 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
3. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy
4. A novel mutation of KCNQ3 (c.925T->C) in a Japanese family with benign familial neonatal convulsions
5. 2 subunit is mutant in nocturnal frontal lobe epilepsy
6. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
7. 2 nicotinic acetylcholine receptors
8. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy
9. Neuronal nicotinic acetylcholine receptors: From the gene to the disease
10. Electrophysiology of neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes following nuclear injection of genes or cDNA
11. Permeation and block of N-methyl-Daspartic acid receptor channels by divalent cations in mouse cultured central neurones
12. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy
13. A de novo mutation in sporadic nocturnal frontal lobe epilepsy
14. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its densensitization kinetics
15. Two mutations linked to nocturnal frontal lobe epilepsy cause use dependent potentiation of the nicotinic ACh response
16. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine
17. Ion channel variation causes idiopathic epilepsies
18. 2 nicotinic acetylcholine receptor function
19. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder
20. An evaluation of neuronal nicotinic acetylcholine receptor activation by quaternary nitrogen compounds indicates that choline is selective for the alpha 7 subtype
21. Choline and selective antagonists identify two subtypes of nicotinic acetylcholine receptors that modulate GABA release from CA1 interneurons in rat hippocampal slices
22. Distribution of nicotinic subtypes in human brain
23. 4 subunit of the nicotinic acetylcholine receptor in the human fetal brain
24. Active propagation of somatic action potentials into neocortical pyramidal cell dendrites
25. Modeling action potential initiation and back-propagation in dendrites of cultured rat motoneurons
26. A new cellular mechanism for coupling inputs arriving at different cortical layers
27. High I(h) channel density in the distal apical dendrite of layer V pyramidal cells increases bidirectional attenuation of EPSPs
28. Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer's disease: Histotopographical correlation with amyloid plaques and hyperphosphorylated-tau protein
29. Expression of nicotinic acetylcholine receptors in Alzheimer's disease: Postmortem investigations and experimental approaches