GABA A receptor epilepsy mutations
Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative g...
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| Veröffentlicht in: | Biochemical pharmacology 2004-10, Vol.68 (8), p.1497-1506 |
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| container_title | Biochemical pharmacology |
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| creator | Macdonald, Robert L. Gallagher, Martin J. Feng, Hua-Jun Kang, Jingqiong |
| description | Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA
A receptor α1, γ2, and δ subunits that have been associated with different IGE syndromes. These mutations affect GABA
A receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures. |
| doi_str_mv | 10.1016/j.bcp.2004.07.029 |
| format | Article |
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A receptor α1, γ2, and δ subunits that have been associated with different IGE syndromes. These mutations affect GABA
A receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures.</description><identifier>ISSN: 0006-2952</identifier><identifier>EISSN: 1873-2968</identifier><identifier>DOI: 10.1016/j.bcp.2004.07.029</identifier><identifier>PMID: 15451392</identifier><language>eng</language><publisher>England: Elsevier Inc</publisher><subject>Electrophysiology ; Epilepsy ; Epilepsy - genetics ; GABA A receptor ; Humans ; Mutation ; Mutations ; Myoclonus ; Protein Subunits - genetics ; Protein Subunits - metabolism ; Receptors, GABA-A - genetics ; Receptors, GABA-A - metabolism ; Review ; Trafficking</subject><ispartof>Biochemical pharmacology, 2004-10, Vol.68 (8), p.1497-1506</ispartof><rights>2004 Elsevier Inc.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://dx.doi.org/10.1016/j.bcp.2004.07.029$$EHTML$$P50$$Gelsevier$$H</linktohtml><link.rule.ids>314,780,784,3550,27924,27925,45995</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/15451392$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Macdonald, Robert L.</creatorcontrib><creatorcontrib>Gallagher, Martin J.</creatorcontrib><creatorcontrib>Feng, Hua-Jun</creatorcontrib><creatorcontrib>Kang, Jingqiong</creatorcontrib><title>GABA A receptor epilepsy mutations</title><title>Biochemical pharmacology</title><addtitle>Biochem Pharmacol</addtitle><description>Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA
A receptor α1, γ2, and δ subunits that have been associated with different IGE syndromes. These mutations affect GABA
A receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures.</description><subject>Electrophysiology</subject><subject>Epilepsy</subject><subject>Epilepsy - genetics</subject><subject>GABA A receptor</subject><subject>Humans</subject><subject>Mutation</subject><subject>Mutations</subject><subject>Myoclonus</subject><subject>Protein Subunits - genetics</subject><subject>Protein Subunits - metabolism</subject><subject>Receptors, GABA-A - genetics</subject><subject>Receptors, GABA-A - metabolism</subject><subject>Review</subject><subject>Trafficking</subject><issn>0006-2952</issn><issn>1873-2968</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNo1kMFKxDAQhoMo7rr6AF6kePDWOkmaNMFTXXQVFrzsPaTpFLK029q0wr69WVxPMwMfP_N_hNxTyChQ-bzPKjdkDCDPoMiA6QuypKrgKdNSXZIlAMi4C7YgNyHsT6eS9JosqMgF5ZotyeOmfC2TMhnR4TD1Y4KDb3EIx6SbJzv5_hBuyVVj24B357kiu_e33foj3X5tPtflNkWq6ZRKhkKrooEaHDSa88qipIWuHXNSMVEpwQB5JWwDVc1Fw7WgEVfW5VrlfEWe_mKHsf-eMUym88Fh29oD9nMwUmrKAUQEH87gXHVYm2H0nR2P5r9UBF7-AIzf_ngcTXAeDw5rH2tOpu69oWBOCs3eRIXmpNBAYaJC_gsufmC-</recordid><startdate>20041015</startdate><enddate>20041015</enddate><creator>Macdonald, Robert L.</creator><creator>Gallagher, Martin J.</creator><creator>Feng, Hua-Jun</creator><creator>Kang, Jingqiong</creator><general>Elsevier Inc</general><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>7X8</scope></search><sort><creationdate>20041015</creationdate><title>GABA A receptor epilepsy mutations</title><author>Macdonald, Robert L. ; Gallagher, Martin J. ; Feng, Hua-Jun ; Kang, Jingqiong</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-e191t-62e5987f0d0c0f933bae6179dc2c6825b8520e3b5af0bd35f39517f08ac49843</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Electrophysiology</topic><topic>Epilepsy</topic><topic>Epilepsy - genetics</topic><topic>GABA A receptor</topic><topic>Humans</topic><topic>Mutation</topic><topic>Mutations</topic><topic>Myoclonus</topic><topic>Protein Subunits - genetics</topic><topic>Protein Subunits - metabolism</topic><topic>Receptors, GABA-A - genetics</topic><topic>Receptors, GABA-A - metabolism</topic><topic>Review</topic><topic>Trafficking</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Macdonald, Robert L.</creatorcontrib><creatorcontrib>Gallagher, Martin J.</creatorcontrib><creatorcontrib>Feng, Hua-Jun</creatorcontrib><creatorcontrib>Kang, Jingqiong</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>MEDLINE - Academic</collection><jtitle>Biochemical pharmacology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Macdonald, Robert L.</au><au>Gallagher, Martin J.</au><au>Feng, Hua-Jun</au><au>Kang, Jingqiong</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>GABA A receptor epilepsy mutations</atitle><jtitle>Biochemical pharmacology</jtitle><addtitle>Biochem Pharmacol</addtitle><date>2004-10-15</date><risdate>2004</risdate><volume>68</volume><issue>8</issue><spage>1497</spage><epage>1506</epage><pages>1497-1506</pages><issn>0006-2952</issn><eissn>1873-2968</eissn><abstract>Idiopathic generalized epilepsy (IGE) syndromes are diseases that are characterized by absence, myoclonic, and/or primary generalized tonic-clonic seizures in the absence of structural brain abnormalities. Although it was long hypothesized that IGE had a genetic basis, only recently have causative genes been identified. Here we review mutations in the GABA
A receptor α1, γ2, and δ subunits that have been associated with different IGE syndromes. These mutations affect GABA
A receptor gating, expression, and/or trafficking of the receptor to the cell surface, all pathophysiological mechanisms that result in neuronal disinhibition and thus predispose affected patients to seizures.</abstract><cop>England</cop><pub>Elsevier Inc</pub><pmid>15451392</pmid><doi>10.1016/j.bcp.2004.07.029</doi><tpages>10</tpages></addata></record> |
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| source | MEDLINE; Access via ScienceDirect (Elsevier) |
| subjects | Electrophysiology Epilepsy Epilepsy - genetics GABA A receptor Humans Mutation Mutations Myoclonus Protein Subunits - genetics Protein Subunits - metabolism Receptors, GABA-A - genetics Receptors, GABA-A - metabolism Review Trafficking |
| title | GABA A receptor epilepsy mutations |
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