Pleiotropic functional effects of the first epilepsy‐associated mutation in the human CHRNA2 gene
Copyright policy )Pleiotropic functional effects of the first epilepsy‐associated mutation in the human CHRNA2 gene
Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) can be caused by mutations in the neuronal nicotinic acetylcholine receptor (nAChR) subunit genes CHRNA4 and CHRNB2. Recently, a point mutation (α2‐I279N) associated with sleep‐related epilepsy has been described in a third nAChR gene, CHRNA2. We demonstrate here that α2‐I279N can be co‐expressed with the major structural subunit CHRNB2. α2‐I279N causes a marked gain‐of‐function effect and displays a distinct biopharmacological profile, including markedly reduced inhibition by carbamazepine and increased nicotine sensitivity.
- Ludwig-Maximilians-Universität München Germany
- Institut für Humangenetik Germany
- LMU Klinikum Germany
CHRNA4 protein, human, Nicotinic acetylcholine receptor, Epilepsy, Frontal Lobe, Xenopus, Frontal lobe epilepsy, Molecular Sequence Data, Receptors, Nicotinic, CHRNA2 protein, human, Amino Acid Substitution, Mutation, Oocytes, Animals, Humans, Female, Amino Acid Sequence
CHRNA4 protein, human, Nicotinic acetylcholine receptor, Epilepsy, Frontal Lobe, Xenopus, Frontal lobe epilepsy, Molecular Sequence Data, Receptors, Nicotinic, CHRNA2 protein, human, Amino Acid Substitution, Mutation, Oocytes, Animals, Humans, Female, Amino Acid Sequence
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