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Article

Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.

British journal of pharmacology - 1 Oct 1998

Bertrand S, Weiland S, Berkovic S F, Steinlein O K, Bertrand D

Abstract excerpt

1. Physiological and pharmacological properties of the human neuronal alpha4beta2 nicotinic AChR and mutants found in patients suffering from autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) were studied. 2. Investigations of nicotinic AChRs reconstituted in Xenopus oocytes with the control or mutated alpha4 subunits revealed that both mutation S248F as well as the Leucine insertion (776ins3) result in...

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Identifiers

PMID: 9831911
DOI: 10.1038/sj.bjp.0702154
PMCID: PMC1571006

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Properties of neuronal nicotinic acetylcholine receptor mutants from humans suffering from autosomal dominant nocturnal frontal lobe epilepsy.PMID 9831911Read ↗

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Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response.Semantic proximity Read ↗

Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes.Semantic proximity Read ↗

Neuronal nicotinic acetylcholine receptors: their properties and alterations in autosomal dominant nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Distinctive effects of nicotinic receptor intracellular-loop mutations associated with nocturnal frontal lobe epilepsy.Semantic proximity Read ↗

Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine.Semantic proximity Read ↗

Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response.Semantic proximity Read ↗

Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor.Semantic proximity Read ↗

Mutations of the neuronal nicotinic acetylcholine receptors and their association with ADNFLE.Semantic proximity Read ↗

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