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Autosomal dominant nocturnal frontal lobe mutations

Kulak JM, Nguyen TA, Olivera BM, McIntosh JM (1997) Alpha-conotoxin Mil blocks nicotine-stimulated dopamine release in rat striatal synaptosomes. J Neurosci 17 5263-5270 Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J (1997) Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca + permeabihty, conductance, and gating of human a4 32 nicotinic acetylcholine receptors, J Neurosci 17 9035-9047 Kuryatov A, Olale FA, Choi C, Lindstrom J (2000) Acetylchohne receptor extracellular domain determines sensitivity to nicotine-induced inactivation, Eur J Pharmacol 393 11-21 Langley JN (1880) On the antagonism of poisons. J Physiol 3 11-21... [Pg.108]

Rodriguez-Pinguet NO, Pinguet TJ, Figl A, Lester HA, Cohen BN (2005) Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca + activation of the a4 32 nicotinic acetylcholine receptor. Mol Pharmacol 68 487-501 Romano C, Goldstein A (1980) Stereospecific nicotine receptors on rat brain membranes. Science 210 647-650... [Pg.110]

Steinlein OK, MuUey JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11 201-203... [Pg.111]

Teper Y, Whyte D, Cahir E, Lester HA, Grady SR, Marks MJ, Cohen BN, Fonck C, McClure-Begley T, McIntosh JM, Labarca C, Lawrence A, Chen F, Gantois I, Davies PJ, Petrou S, Murphy M, Waddington J, Home MK, Berkovic SF, Drago J (2007) Nicotine-induced dystonic arousal complex in a mouse line harboring a human autosomal-dominant nocturnal frontal lobe epilepsy mutation. J Neurosci 27 10128-10142... [Pg.111]

McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM (2003) Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 44 613-617... [Pg.778]

Picard F, Bertrand S, Steinlein OK, Bertrand D (1999) Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. Epdepsia 40 1198-1209... [Pg.780]

Steinlein OK, Magnusson A, Stood J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D (1997) An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6 943-947... [Pg.782]

Clues on the physiological role of neuronal nicotinic receptors come from the identification of a form of human epilepsy that can be caused by mutations in either the a4 or the J32 nicotinic subunits. This rare syndrome, autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), was the first idiopathic epilepsy to be identified as a monogenic disorder (244), and consists of seizures that occur during light... [Pg.392]

Autosomal dominant nocturnal frontal-lobe epilepsy (ADNFLE) is a form of partial epilepsy which is characterized by frontal-lobe motor seizures occurring during sleep (Philips et al., 1998). This disorder has been linked to a mutation in the channel-lining domain (M2) of the a 4 nicotinic receptor subunit with use-dependent potentiation of the electrophysiological response to nicotinic agonists (Lena and Changeux, 1998). If the symptoms of ADNFLE are secondary to overactivity of this receptor or unusual potentiation, then nicotinic antagonists such as mecamylamine may be helpful. [Pg.29]


See other pages where Autosomal dominant nocturnal frontal lobe mutations is mentioned: [Pg.100]    [Pg.766]   
See also in sourсe #XX -- [ Pg.768 ]




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Autosomal dominant nocturnal frontal lobe

Autosomal-dominant nocturnal

Autosome

Domin

Dominance

Dominant

Dominate

Domination

Frontal

Lobes

Nocturnal

Nocturne

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