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- Publisher Website: 10.1038/88254
- Scopus: eid_2-s2.0-0035030766
- PMID: 11326274
- WOS: WOS:000168413300014
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Article: First genetic evidence of GABAA receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene
Title | First genetic evidence of GABAA receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene |
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Authors | |
Keywords | Species Index: Xenopus Laevis |
Issue Date | 2001 |
Publisher | Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com |
Citation | Nature Genetics, 2001, v. 28 n. 1, p. 46-48 How to Cite? |
Abstract | Major advances in the identification of genes implicated in idiopathic epilepsy have been made. Generalized epilepsy with febrile seizures plus (GEFS+), benign familial neonatal convulsions and nocturnal frontal lobe epilepsy, three autosomal dominant idiopathic epilepsies, result from mutations affecting voltage-gated sodium and potassium channels, and nicotinic acetylcholine receptors, respectively1-6. Disruption of GABAergic neurotransmission mediated by γ-aminobutyric acid (GABA) has been implicated in epilepsy for many decades7. We now report a K289M mutation in the GABAA receptor γ2-subunit gene (GABRG2) that segregates in a family with a phenotype closely related to GEFS+ (ref. 8), an autosomal dominant disorder associating febrile seizures and generalized epilepsy previously linked to mutations in sodium channel genes1,2. The K289M mutation affects a highly conserved residue located in the extracellular loop between transmembrane segments M2 and M3. Analysis of the mutated and wild-type alleles in Xenopus laevis oocytes confirmed the predicted effect of the mutation, a decrease in the amplitude of GABA-activated currents. We thus provide the first genetic evidence that a GABAA receptor is directly involved in human idiopathic epilepsy. |
Persistent Identifier | http://hdl.handle.net/10722/132716 |
ISSN | 2023 Impact Factor: 31.7 2023 SCImago Journal Rankings: 17.300 |
ISI Accession Number ID | |
References |
DC Field | Value | Language |
---|---|---|
dc.contributor.author | Baulac, S | en_HK |
dc.contributor.author | Huberfeld, G | en_HK |
dc.contributor.author | GourfinkelAn, I | en_HK |
dc.contributor.author | Mitropoulou, G | en_HK |
dc.contributor.author | Beranger, A | en_HK |
dc.contributor.author | Prud'homme, JF | en_HK |
dc.contributor.author | Baulac, M | en_HK |
dc.contributor.author | Brice, A | en_HK |
dc.contributor.author | Bruzzone, R | en_HK |
dc.contributor.author | LeGuern, E | en_HK |
dc.date.accessioned | 2011-03-28T09:28:30Z | - |
dc.date.available | 2011-03-28T09:28:30Z | - |
dc.date.issued | 2001 | en_HK |
dc.identifier.citation | Nature Genetics, 2001, v. 28 n. 1, p. 46-48 | en_HK |
dc.identifier.issn | 1061-4036 | en_HK |
dc.identifier.uri | http://hdl.handle.net/10722/132716 | - |
dc.description.abstract | Major advances in the identification of genes implicated in idiopathic epilepsy have been made. Generalized epilepsy with febrile seizures plus (GEFS+), benign familial neonatal convulsions and nocturnal frontal lobe epilepsy, three autosomal dominant idiopathic epilepsies, result from mutations affecting voltage-gated sodium and potassium channels, and nicotinic acetylcholine receptors, respectively1-6. Disruption of GABAergic neurotransmission mediated by γ-aminobutyric acid (GABA) has been implicated in epilepsy for many decades7. We now report a K289M mutation in the GABAA receptor γ2-subunit gene (GABRG2) that segregates in a family with a phenotype closely related to GEFS+ (ref. 8), an autosomal dominant disorder associating febrile seizures and generalized epilepsy previously linked to mutations in sodium channel genes1,2. The K289M mutation affects a highly conserved residue located in the extracellular loop between transmembrane segments M2 and M3. Analysis of the mutated and wild-type alleles in Xenopus laevis oocytes confirmed the predicted effect of the mutation, a decrease in the amplitude of GABA-activated currents. We thus provide the first genetic evidence that a GABAA receptor is directly involved in human idiopathic epilepsy. | en_HK |
dc.language | eng | en_US |
dc.publisher | Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com | en_HK |
dc.relation.ispartof | Nature Genetics | en_HK |
dc.subject | Species Index: Xenopus Laevis | en_US |
dc.title | First genetic evidence of GABAA receptor dysfunction in epilepsy: A mutation in the γ2-subunit gene | en_HK |
dc.type | Article | en_HK |
dc.identifier.email | Bruzzone, R: bruzzone@hkucc.hku.hk | en_HK |
dc.identifier.authority | Bruzzone, R=rp01442 | en_HK |
dc.description.nature | link_to_subscribed_fulltext | en_US |
dc.identifier.doi | 10.1038/88254 | en_HK |
dc.identifier.pmid | 11326274 | - |
dc.identifier.scopus | eid_2-s2.0-0035030766 | en_HK |
dc.relation.references | http://www.scopus.com/mlt/select.url?eid=2-s2.0-0035030766&selection=ref&src=s&origin=recordpage | en_HK |
dc.identifier.volume | 28 | en_HK |
dc.identifier.issue | 1 | en_HK |
dc.identifier.spage | 46 | en_HK |
dc.identifier.epage | 48 | en_HK |
dc.identifier.isi | WOS:000168413300014 | - |
dc.publisher.place | United States | en_HK |
dc.identifier.scopusauthorid | Baulac, S=6602469838 | en_HK |
dc.identifier.scopusauthorid | Huberfeld, G=10440613000 | en_HK |
dc.identifier.scopusauthorid | GourfinkelAn, I=6603173006 | en_HK |
dc.identifier.scopusauthorid | Mitropoulou, G=8772857700 | en_HK |
dc.identifier.scopusauthorid | Beranger, A=22943106300 | en_HK |
dc.identifier.scopusauthorid | Prud'homme, JF=7007093886 | en_HK |
dc.identifier.scopusauthorid | Baulac, M=26642898200 | en_HK |
dc.identifier.scopusauthorid | Brice, A=7102675554 | en_HK |
dc.identifier.scopusauthorid | Bruzzone, R=7006793327 | en_HK |
dc.identifier.scopusauthorid | LeGuern, E=7006086128 | en_HK |
dc.identifier.citeulike | 3892044 | - |
dc.identifier.issnl | 1061-4036 | - |