Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy
Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor...
Gespeichert in:
| Veröffentlicht in: | Nature genetics 2002-06, Vol.31 (2), p.184-189 |
|---|---|
| Hauptverfasser: | , , , , , , , , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 189 |
|---|---|
| container_issue | 2 |
| container_start_page | 184 |
| container_title | Nature genetics |
| container_volume | 31 |
| creator | Brisebois, Katéri Lortie, Anne Vanasse, Michel Carmant, Lionel Rouleau, Guy A Verner, Andrei Cossette, Patrick Tian Wang, Yu Liu, Lidong Lu, Wei-Yang Saint-Hilaire, Jean-Marc Dong, Haiheng |
| description | Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABAA receptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents in vitro, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans. |
| doi_str_mv | 10.1038/ng885 |
| format | Article |
| fullrecord | <record><control><sourceid>gale_proqu</sourceid><recordid>TN_cdi_proquest_miscellaneous_71767337</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><galeid>A183420952</galeid><sourcerecordid>A183420952</sourcerecordid><originalsourceid>FETCH-LOGICAL-c615t-2490cd1a9169e7a4b3b414ad433118264c00728863d43e50bc6b0aaa18e704193</originalsourceid><addsrcrecordid>eNqNkl2L1DAUhoso7rruLxCkKApedM1p0jS9HBddF1YG1o_bcpqmQ4Y26SapOP_e1A6OswhKAvk4z3mTc3iT5BzIBRAq3pqNEMWD5BQKxjMoQTyMe8IhY4Tyk-SJ91tCgDEiHicnAFWVQw6nyfrTFDBoa1LbpVerd7crSLVJMc4pWG8H7NPWDtqgCWln3TBz2-m7MrpX6bCzsrdGy1SN8Tz63dPkUYe9V-f79Sz5-uH9l8uP2c366vpydZNJDkXIclYR2QJWwCtVImtow4BhyygFEDlnkpAyF4LTeKUK0kjeEEQEoUrCoKJnyetFd3T2blI-1IP2UvU9GmUnX5dQ8pLS8p8gCEoJq2bFF_fArZ2ciUXUeR5_VJBqVnu5QBvsVa1NZ4NDOSvWq6jEclIVeaQu_kLF0apBS2tUF5t1nPDmKCEyQf0IG5y8r68_3_4_u_52zL5aWOms90519ej0gG5XA6ln29S_bBO55_vap2ZQ7YHa--QgNKKX2HcOjdT-wNGSCM7_6LaPIbNR7tDE-y8-W0CDYXLqt9IS_Qnpmtmr</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>222645097</pqid></control><display><type>article</type><title>Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy</title><source>MEDLINE</source><source>Nature Journals Online</source><source>SpringerLink Journals - AutoHoldings</source><creator>Brisebois, Katéri ; Lortie, Anne ; Vanasse, Michel ; Carmant, Lionel ; Rouleau, Guy A ; Verner, Andrei ; Cossette, Patrick ; Tian Wang, Yu ; Liu, Lidong ; Lu, Wei-Yang ; Saint-Hilaire, Jean-Marc ; Dong, Haiheng</creator><creatorcontrib>Brisebois, Katéri ; Lortie, Anne ; Vanasse, Michel ; Carmant, Lionel ; Rouleau, Guy A ; Verner, Andrei ; Cossette, Patrick ; Tian Wang, Yu ; Liu, Lidong ; Lu, Wei-Yang ; Saint-Hilaire, Jean-Marc ; Dong, Haiheng</creatorcontrib><description>Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABAA receptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents in vitro, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans.</description><identifier>ISSN: 1061-4036</identifier><identifier>EISSN: 1546-1718</identifier><identifier>DOI: 10.1038/ng885</identifier><identifier>PMID: 11992121</identifier><identifier>CODEN: NGENEC</identifier><language>eng</language><publisher>New York: Nature Publishing Group US</publisher><subject>Adolescent ; Adult ; Agriculture ; Amino Acid Sequence ; Amino Acid Substitution - genetics ; Animal Genetics and Genomics ; Biological and medical sciences ; Biomedical and Life Sciences ; Biomedicine ; Cancer Research ; Care and treatment ; Child ; Child, Preschool ; Children ; Complications and side effects ; Convulsions & seizures ; Diagnosis ; Epilepsy ; Epilepsy, Generalized - etiology ; Epilepsy, Generalized - genetics ; Fundamental and applied biological sciences. Psychology ; GABRA1 gene ; Gene Function ; Gene mutations ; Genes, Dominant ; Genes. Genome ; Genetic Predisposition to Disease ; Health aspects ; Human Genetics ; Humans ; juvenile myoclonic epilepsy ; letter ; Molecular and cellular biology ; Molecular genetics ; Molecular Sequence Data ; Mutation ; Mutation, Missense - genetics ; Myoclonic epilepsy ; Myoclonic Epilepsy, Juvenile - etiology ; Myoclonic Epilepsy, Juvenile - genetics ; Pedigree ; Receptors, GABA-A - genetics ; Risk factors</subject><ispartof>Nature genetics, 2002-06, Vol.31 (2), p.184-189</ispartof><rights>Springer Nature America, Inc. 2002</rights><rights>2002 INIST-CNRS</rights><rights>COPYRIGHT 2002 Nature Publishing Group</rights><rights>Copyright Nature Publishing Group Jun 2002</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c615t-2490cd1a9169e7a4b3b414ad433118264c00728863d43e50bc6b0aaa18e704193</citedby><cites>FETCH-LOGICAL-c615t-2490cd1a9169e7a4b3b414ad433118264c00728863d43e50bc6b0aaa18e704193</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://link.springer.com/content/pdf/10.1038/ng885$$EPDF$$P50$$Gspringer$$H</linktopdf><linktohtml>$$Uhttps://link.springer.com/10.1038/ng885$$EHTML$$P50$$Gspringer$$H</linktohtml><link.rule.ids>314,780,784,2727,27924,27925,41488,42557,51319</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=13708667$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/11992121$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Brisebois, Katéri</creatorcontrib><creatorcontrib>Lortie, Anne</creatorcontrib><creatorcontrib>Vanasse, Michel</creatorcontrib><creatorcontrib>Carmant, Lionel</creatorcontrib><creatorcontrib>Rouleau, Guy A</creatorcontrib><creatorcontrib>Verner, Andrei</creatorcontrib><creatorcontrib>Cossette, Patrick</creatorcontrib><creatorcontrib>Tian Wang, Yu</creatorcontrib><creatorcontrib>Liu, Lidong</creatorcontrib><creatorcontrib>Lu, Wei-Yang</creatorcontrib><creatorcontrib>Saint-Hilaire, Jean-Marc</creatorcontrib><creatorcontrib>Dong, Haiheng</creatorcontrib><title>Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy</title><title>Nature genetics</title><addtitle>Nat Genet</addtitle><addtitle>Nat Genet</addtitle><description>Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABAA receptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents in vitro, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Agriculture</subject><subject>Amino Acid Sequence</subject><subject>Amino Acid Substitution - genetics</subject><subject>Animal Genetics and Genomics</subject><subject>Biological and medical sciences</subject><subject>Biomedical and Life Sciences</subject><subject>Biomedicine</subject><subject>Cancer Research</subject><subject>Care and treatment</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Children</subject><subject>Complications and side effects</subject><subject>Convulsions & seizures</subject><subject>Diagnosis</subject><subject>Epilepsy</subject><subject>Epilepsy, Generalized - etiology</subject><subject>Epilepsy, Generalized - genetics</subject><subject>Fundamental and applied biological sciences. Psychology</subject><subject>GABRA1 gene</subject><subject>Gene Function</subject><subject>Gene mutations</subject><subject>Genes, Dominant</subject><subject>Genes. Genome</subject><subject>Genetic Predisposition to Disease</subject><subject>Health aspects</subject><subject>Human Genetics</subject><subject>Humans</subject><subject>juvenile myoclonic epilepsy</subject><subject>letter</subject><subject>Molecular and cellular biology</subject><subject>Molecular genetics</subject><subject>Molecular Sequence Data</subject><subject>Mutation</subject><subject>Mutation, Missense - genetics</subject><subject>Myoclonic epilepsy</subject><subject>Myoclonic Epilepsy, Juvenile - etiology</subject><subject>Myoclonic Epilepsy, Juvenile - genetics</subject><subject>Pedigree</subject><subject>Receptors, GABA-A - genetics</subject><subject>Risk factors</subject><issn>1061-4036</issn><issn>1546-1718</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2002</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>8G5</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>AZQEC</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><sourceid>DWQXO</sourceid><sourceid>GNUQQ</sourceid><sourceid>GUQSH</sourceid><sourceid>M2O</sourceid><recordid>eNqNkl2L1DAUhoso7rruLxCkKApedM1p0jS9HBddF1YG1o_bcpqmQ4Y26SapOP_e1A6OswhKAvk4z3mTc3iT5BzIBRAq3pqNEMWD5BQKxjMoQTyMe8IhY4Tyk-SJ91tCgDEiHicnAFWVQw6nyfrTFDBoa1LbpVerd7crSLVJMc4pWG8H7NPWDtqgCWln3TBz2-m7MrpX6bCzsrdGy1SN8Tz63dPkUYe9V-f79Sz5-uH9l8uP2c366vpydZNJDkXIclYR2QJWwCtVImtow4BhyygFEDlnkpAyF4LTeKUK0kjeEEQEoUrCoKJnyetFd3T2blI-1IP2UvU9GmUnX5dQ8pLS8p8gCEoJq2bFF_fArZ2ciUXUeR5_VJBqVnu5QBvsVa1NZ4NDOSvWq6jEclIVeaQu_kLF0apBS2tUF5t1nPDmKCEyQf0IG5y8r68_3_4_u_52zL5aWOms90519ej0gG5XA6ln29S_bBO55_vap2ZQ7YHa--QgNKKX2HcOjdT-wNGSCM7_6LaPIbNR7tDE-y8-W0CDYXLqt9IS_Qnpmtmr</recordid><startdate>20020601</startdate><enddate>20020601</enddate><creator>Brisebois, Katéri</creator><creator>Lortie, Anne</creator><creator>Vanasse, Michel</creator><creator>Carmant, Lionel</creator><creator>Rouleau, Guy A</creator><creator>Verner, Andrei</creator><creator>Cossette, Patrick</creator><creator>Tian Wang, Yu</creator><creator>Liu, Lidong</creator><creator>Lu, Wei-Yang</creator><creator>Saint-Hilaire, Jean-Marc</creator><creator>Dong, Haiheng</creator><general>Nature Publishing Group US</general><general>Nature Publishing Group</general><scope>IQODW</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QL</scope><scope>7QP</scope><scope>7QR</scope><scope>7SS</scope><scope>7T7</scope><scope>7TK</scope><scope>7TM</scope><scope>7U9</scope><scope>7X7</scope><scope>7XB</scope><scope>88A</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>8G5</scope><scope>ABUWG</scope><scope>AFKRA</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>GUQSH</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>LK8</scope><scope>M0S</scope><scope>M1P</scope><scope>M2O</scope><scope>M7N</scope><scope>M7P</scope><scope>MBDVC</scope><scope>P64</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>Q9U</scope><scope>RC3</scope><scope>7X8</scope></search><sort><creationdate>20020601</creationdate><title>Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy</title><author>Brisebois, Katéri ; Lortie, Anne ; Vanasse, Michel ; Carmant, Lionel ; Rouleau, Guy A ; Verner, Andrei ; Cossette, Patrick ; Tian Wang, Yu ; Liu, Lidong ; Lu, Wei-Yang ; Saint-Hilaire, Jean-Marc ; Dong, Haiheng</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c615t-2490cd1a9169e7a4b3b414ad433118264c00728863d43e50bc6b0aaa18e704193</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2002</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Agriculture</topic><topic>Amino Acid Sequence</topic><topic>Amino Acid Substitution - genetics</topic><topic>Animal Genetics and Genomics</topic><topic>Biological and medical sciences</topic><topic>Biomedical and Life Sciences</topic><topic>Biomedicine</topic><topic>Cancer Research</topic><topic>Care and treatment</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Children</topic><topic>Complications and side effects</topic><topic>Convulsions & seizures</topic><topic>Diagnosis</topic><topic>Epilepsy</topic><topic>Epilepsy, Generalized - etiology</topic><topic>Epilepsy, Generalized - genetics</topic><topic>Fundamental and applied biological sciences. Psychology</topic><topic>GABRA1 gene</topic><topic>Gene Function</topic><topic>Gene mutations</topic><topic>Genes, Dominant</topic><topic>Genes. Genome</topic><topic>Genetic Predisposition to Disease</topic><topic>Health aspects</topic><topic>Human Genetics</topic><topic>Humans</topic><topic>juvenile myoclonic epilepsy</topic><topic>letter</topic><topic>Molecular and cellular biology</topic><topic>Molecular genetics</topic><topic>Molecular Sequence Data</topic><topic>Mutation</topic><topic>Mutation, Missense - genetics</topic><topic>Myoclonic epilepsy</topic><topic>Myoclonic Epilepsy, Juvenile - etiology</topic><topic>Myoclonic Epilepsy, Juvenile - genetics</topic><topic>Pedigree</topic><topic>Receptors, GABA-A - genetics</topic><topic>Risk factors</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Brisebois, Katéri</creatorcontrib><creatorcontrib>Lortie, Anne</creatorcontrib><creatorcontrib>Vanasse, Michel</creatorcontrib><creatorcontrib>Carmant, Lionel</creatorcontrib><creatorcontrib>Rouleau, Guy A</creatorcontrib><creatorcontrib>Verner, Andrei</creatorcontrib><creatorcontrib>Cossette, Patrick</creatorcontrib><creatorcontrib>Tian Wang, Yu</creatorcontrib><creatorcontrib>Liu, Lidong</creatorcontrib><creatorcontrib>Lu, Wei-Yang</creatorcontrib><creatorcontrib>Saint-Hilaire, Jean-Marc</creatorcontrib><creatorcontrib>Dong, Haiheng</creatorcontrib><collection>Pascal-Francis</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Gale In Context: Opposing Viewpoints</collection><collection>Gale In Context: Science</collection><collection>ProQuest Central (Corporate)</collection><collection>Bacteriology Abstracts (Microbiology B)</collection><collection>Calcium & Calcified Tissue Abstracts</collection><collection>Chemoreception Abstracts</collection><collection>Entomology Abstracts (Full archive)</collection><collection>Industrial and Applied Microbiology Abstracts (Microbiology A)</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Health & Medical Collection</collection><collection>ProQuest Central (purchase pre-March 2016)</collection><collection>Biology Database (Alumni Edition)</collection><collection>Medical Database (Alumni Edition)</collection><collection>ProQuest Pharma Collection</collection><collection>Public Health Database</collection><collection>Technology Research Database</collection><collection>ProQuest SciTech Collection</collection><collection>ProQuest Natural Science Collection</collection><collection>Hospital Premium Collection</collection><collection>Hospital Premium Collection (Alumni Edition)</collection><collection>ProQuest Central (Alumni) (purchase pre-March 2016)</collection><collection>Research Library (Alumni Edition)</collection><collection>ProQuest Central (Alumni Edition)</collection><collection>ProQuest Central UK/Ireland</collection><collection>ProQuest Central Essentials</collection><collection>Biological Science Collection</collection><collection>ProQuest Central</collection><collection>Natural Science Collection</collection><collection>Environmental Sciences and Pollution Management</collection><collection>ProQuest One Community College</collection><collection>ProQuest Central Korea</collection><collection>Engineering Research Database</collection><collection>Health Research Premium Collection</collection><collection>Health Research Premium Collection (Alumni)</collection><collection>ProQuest Central Student</collection><collection>Research Library Prep</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>SciTech Premium Collection</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>ProQuest Biological Science Collection</collection><collection>Health & Medical Collection (Alumni Edition)</collection><collection>Medical Database</collection><collection>Research Library</collection><collection>Algology Mycology and Protozoology Abstracts (Microbiology C)</collection><collection>Biological Science Database</collection><collection>Research Library (Corporate)</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>ProQuest One Academic Eastern Edition (DO NOT USE)</collection><collection>ProQuest One Academic</collection><collection>ProQuest One Academic UKI Edition</collection><collection>ProQuest Central Basic</collection><collection>Genetics Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Nature genetics</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Brisebois, Katéri</au><au>Lortie, Anne</au><au>Vanasse, Michel</au><au>Carmant, Lionel</au><au>Rouleau, Guy A</au><au>Verner, Andrei</au><au>Cossette, Patrick</au><au>Tian Wang, Yu</au><au>Liu, Lidong</au><au>Lu, Wei-Yang</au><au>Saint-Hilaire, Jean-Marc</au><au>Dong, Haiheng</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy</atitle><jtitle>Nature genetics</jtitle><stitle>Nat Genet</stitle><addtitle>Nat Genet</addtitle><date>2002-06-01</date><risdate>2002</risdate><volume>31</volume><issue>2</issue><spage>184</spage><epage>189</epage><pages>184-189</pages><issn>1061-4036</issn><eissn>1546-1718</eissn><coden>NGENEC</coden><abstract>Although many genes that predispose for epilepsy in humans have been determined, those that underlie the classical syndromes of idiopathic generalized epilepsy (IGE) have yet to be identified. We report that an Ala322Asp mutation in GABRA1, encoding the α1 subunit of the γ-aminobutyric acid receptor subtype A (GABAA), is found in affected individuals of a large French Canadian family with juvenile myoclonic epilepsy. Compared with wildtype receptors, GABAA receptors that contain the mutant subunit show a lesser amplitude of GABA-activated currents in vitro, indicating that seizures may result from loss of function of this inhibitory ligand-gated channel. Our results confirm that mutation of GABRA1 predisposes towards a common idiopathic generalized epilepsy syndrome in humans.</abstract><cop>New York</cop><pub>Nature Publishing Group US</pub><pmid>11992121</pmid><doi>10.1038/ng885</doi><tpages>6</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1061-4036 |
| ispartof | Nature genetics, 2002-06, Vol.31 (2), p.184-189 |
| issn | 1061-4036 1546-1718 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_71767337 |
| source | MEDLINE; Nature Journals Online; SpringerLink Journals - AutoHoldings |
| subjects | Adolescent Adult Agriculture Amino Acid Sequence Amino Acid Substitution - genetics Animal Genetics and Genomics Biological and medical sciences Biomedical and Life Sciences Biomedicine Cancer Research Care and treatment Child Child, Preschool Children Complications and side effects Convulsions & seizures Diagnosis Epilepsy Epilepsy, Generalized - etiology Epilepsy, Generalized - genetics Fundamental and applied biological sciences. Psychology GABRA1 gene Gene Function Gene mutations Genes, Dominant Genes. Genome Genetic Predisposition to Disease Health aspects Human Genetics Humans juvenile myoclonic epilepsy letter Molecular and cellular biology Molecular genetics Molecular Sequence Data Mutation Mutation, Missense - genetics Myoclonic epilepsy Myoclonic Epilepsy, Juvenile - etiology Myoclonic Epilepsy, Juvenile - genetics Pedigree Receptors, GABA-A - genetics Risk factors |
| title | Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-06T19%3A07%3A41IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_proqu&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Mutation%20of%20GABRA1%20in%20an%20autosomal%20dominant%20form%20of%20juvenile%20myoclonic%20epilepsy&rft.jtitle=Nature%20genetics&rft.au=Brisebois,%20Kat%C3%A9ri&rft.date=2002-06-01&rft.volume=31&rft.issue=2&rft.spage=184&rft.epage=189&rft.pages=184-189&rft.issn=1061-4036&rft.eissn=1546-1718&rft.coden=NGENEC&rft_id=info:doi/10.1038/ng885&rft_dat=%3Cgale_proqu%3EA183420952%3C/gale_proqu%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=222645097&rft_id=info:pmid/11992121&rft_galeid=A183420952&rfr_iscdi=true |