• 1
    Phillips HA, Scheffer IE, Berkovic, SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2. Nat Genet 1995;10:1178.
  • 2
    Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995;11:2013.
  • 3
    Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 1997;6:9437.
  • 4
    Hirose S, Zenri F, Akiyoshi H, et al. A novel mutation of KCNQ3 (c.925T–>C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol 2000;47:8226.
  • 5
    De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor β2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:2756.
  • 6
    Phillips HA, Favre I, Kirkpatric M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 2001;68:22531.
  • 7
    Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human α4β2 nicotinic acetylcholine receptors. J Neurosci 1997;17:903547.
  • 8
    Bertrand S, Weiland S, Berkovic SF, Steinlein OK, Bertrand D. Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy. Br J Pharmacol 1998;125:75160.
  • 9
    Weiland S, Bertrand D, Leonard S. Neuronal nicotinic acetylcholine receptors: from the gene to the disease. Behav Brain Res 2000;113:4356.
  • 10
    Bertrand D, Cooper E, Valera S, Rungger D, Ballivet M. Electrophysiology of neuronal nicotinic acetylcholine receptors expressed in Xenopus oocytes following nuclear injection of genes or cDNA. In: ConnM, ed. Methods in Neuroscience. New York: Academic Press, 1991:17493.
  • 11
    Mayer ML, Westbrook GL. Permeation and block of N-methyl-d-aspartic acid receptor channels by divalent cations in mouse cultured central neurones. J Physiol 1987;394:50127.
  • 12
    Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 2000;41:52935.
  • 13
    Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 2000;48:2647.DOI: 10.1002/1531-8249(200008)48:2<264::aid-ana20>;2-2
  • 14
    Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its densensitization kinetics. FEBS Lett 1996;398:916.
  • 15
    Figl A, Viseshakul N, Shafaee N, Forsayeth J, Cohen BN. Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response. J Physiol 1998;513:65570.
  • 16
    Picard F, Bertrand S, Steinlein OK, Bertrand D. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. Epilepsia 1999;40:1198209.
  • 17
    Moulard B, Picard F, Le Hellard S, et al. Ion channel variation causes idiopathic epilepsies. Brain Res Review 2001;36:27584.
  • 18
    Buisson B, Bertrand D. Chronic exposure to nicotine upregulates the human α4β2 nicotinic acetylcholine receptor function. J Neurosci 2001;21:181929.
  • 19
    Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain 1995;118:6173.
  • 20
    Papke RL, Bencherif M, Lippiello P. An evaluation of neuronal nicotinic acetylcholine receptor activation by quaternary nitrogen compounds indicates that choline is selective for the alpha 7 subtype. Neurosci Lett 1996;213:2014.
  • 21
    Alkondon M, Pereira EF, Eisenberg HM, Albuquerque EX. Choline and selective antagonists identify two subtypes of nicotinic acetylcholine receptors that modulate GABA release from CA1 interneurons in rat hippocampal slices. J Neurosci 1999;19:2693705.
  • 22
    Court J, Clementi F. Distribution of nicotinic subtypes in human brain. Alzheimer Dis Assoc Disord 1995;9:614.
  • 23
    Agulhon C, Charnay Y, Vallet P, et al. Distribution of mRNA for the α4 subunit of the nicotinic acetylcholine receptor in the human fetal brain. Brain Res Mol Brain Res 1998;58:12331.
  • 24
    Stuart GJ, Sakmann B. Active propagation of somatic action potentials into neocortical pyramidal cell dendrites. Nature 1994;367:6972.
  • 25
    Luscher HR, Larkum ME. Modeling action potential initiation and back-propagation in dendrites of cultured rat motoneurons. J Neurophysiol 1998;80:71529.
  • 26
    Larkum ME, Zhu JJ, Sakmann B. A new cellular mechanism for coupling inputs arriving at different cortical layers. Nature 1999;398:33841.
  • 27
    Berger T, Larkum ME, Luscher HR. High I(h) channel density in the distal apical dendrite of layer V pyramidal cells increases bidirectional attenuation of EPSPs. J Neurophysiol 2001;85:85568.
  • 28
    Wevers A, Monteggia L, Nowachi S, et al. Expression of nicotinic acetylcholine receptor subunits in the cerebral cortex in Alzheimer's disease: histotopographical correlation with amyloid plaques and hyperphosphorylated-tau protein. Eur J Neurosci 1999;11:255165.
  • 29
    Wevers A, Burghaus L, Moser N, et al. Expression of nicotinic acetylcholine receptors in Alzheimer's disease: postmortem investigations and experimental approaches. Behav Brain Res 2000;113:20715.