The natural history of epilepsy in tuberous sclerosis complex
Summary Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease. Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were r...
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| Veröffentlicht in: | Epilepsia (Copenhagen) 2010-07, Vol.51 (7), p.1236-1241 |
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| creator | Chu‐Shore, Catherine J. Major, Philippe Camposano, Susana Muzykewicz, David Thiele, Elizabeth A. |
| description | Summary
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox‐Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.
Results: Two hundred ninety‐one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p |
| doi_str_mv | 10.1111/j.1528-1167.2009.02474.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_pubme</sourceid><recordid>TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3065368</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>744626080</sourcerecordid><originalsourceid>FETCH-LOGICAL-c6014-9e8e0c00f907858b78bd569af4b51bb87bcba64dae05997b98162aa5484f5efe3</originalsourceid><addsrcrecordid>eNqNkU1v1DAQQC1URJfCX6h8qXpKGMffhyKhqkClSnAoZ8v2Ol2vskkaJ-3uv6_DLgucwBePNG9GM_MQwgRKkt-HdUl4pQpChCwrAF1CxSQrt6_Q4pg4QQsAQgvNFZyitymtAUAKSd-g01zDiGawQFf3q4BbO06DbfAqprEbdrircehjE_q0w7HF4-TC0E0JJ9_kIMWEfbfpm7B9h17Xtknh_eE_Qz8-39xffy3uvn25vf50V3gBhBU6qAAeoNYgFVdOKrfkQtuaOU6cU9J5ZwVb2gBca-m0IqKyljPFah7qQM_Qx33ffnKbsPShHfO8ph_ixg4709lo_s60cWUeuidDQXAqVG5weWgwdI9TSKPZxORD09g25M2MZExUAhT8m6RUawJKZFLtSZ9vkoZQH-chYGZNZm1mG2a2YWZN5qcms82l53_ucyz85SUDFwfAJm-berCtj-k3R4FWTJDMXe2556xr998DmJvvt3NEXwBoFq7R</addsrcrecordid><sourcetype>Open Access Repository</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>733991086</pqid></control><display><type>article</type><title>The natural history of epilepsy in tuberous sclerosis complex</title><source>Wiley Free Content</source><source>MEDLINE</source><source>IngentaConnect Free/Open Access Journals</source><source>Wiley Online Library Journals Frontfile Complete</source><source>EZB-FREE-00999 freely available EZB journals</source><source>Alma/SFX Local Collection</source><creator>Chu‐Shore, Catherine J. ; Major, Philippe ; Camposano, Susana ; Muzykewicz, David ; Thiele, Elizabeth A.</creator><creatorcontrib>Chu‐Shore, Catherine J. ; Major, Philippe ; Camposano, Susana ; Muzykewicz, David ; Thiele, Elizabeth A.</creatorcontrib><description>Summary
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox‐Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.
Results: Two hundred ninety‐one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission.
Conclusion: Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.</description><identifier>ISSN: 0013-9580</identifier><identifier>EISSN: 1528-1167</identifier><identifier>DOI: 10.1111/j.1528-1167.2009.02474.x</identifier><identifier>PMID: 20041940</identifier><identifier>CODEN: EPILAK</identifier><language>eng</language><publisher>Oxford, UK: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Anticonvulsants. Antiepileptics. Antiparkinson agents ; Biological and medical sciences ; Child ; Child, Preschool ; Epilepsy ; Epilepsy - etiology ; Epilepsy - physiopathology ; Follow-Up Studies ; Genetics ; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy ; Humans ; Infant ; Infant, Newborn ; Infantile spasms ; Medical sciences ; Middle Aged ; Nervous system (semeiology, syndromes) ; Neurology ; Neuropharmacology ; Outcome ; Pharmacology. Drug treatments ; Retrospective Studies ; Tuberous Sclerosis - complications ; Tuberous Sclerosis - physiopathology ; Tuberous sclerosis complex ; Young Adult</subject><ispartof>Epilepsia (Copenhagen), 2010-07, Vol.51 (7), p.1236-1241</ispartof><rights>Wiley Periodicals, Inc. © 2009 International League Against Epilepsy</rights><rights>2015 INIST-CNRS</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c6014-9e8e0c00f907858b78bd569af4b51bb87bcba64dae05997b98162aa5484f5efe3</citedby><cites>FETCH-LOGICAL-c6014-9e8e0c00f907858b78bd569af4b51bb87bcba64dae05997b98162aa5484f5efe3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1528-1167.2009.02474.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1528-1167.2009.02474.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>230,314,776,780,881,1411,1427,27901,27902,45550,45551,46384,46808</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=23032461$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/20041940$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Chu‐Shore, Catherine J.</creatorcontrib><creatorcontrib>Major, Philippe</creatorcontrib><creatorcontrib>Camposano, Susana</creatorcontrib><creatorcontrib>Muzykewicz, David</creatorcontrib><creatorcontrib>Thiele, Elizabeth A.</creatorcontrib><title>The natural history of epilepsy in tuberous sclerosis complex</title><title>Epilepsia (Copenhagen)</title><addtitle>Epilepsia</addtitle><description>Summary
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox‐Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.
Results: Two hundred ninety‐one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission.
Conclusion: Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Anticonvulsants. Antiepileptics. Antiparkinson agents</subject><subject>Biological and medical sciences</subject><subject>Child</subject><subject>Child, Preschool</subject><subject>Epilepsy</subject><subject>Epilepsy - etiology</subject><subject>Epilepsy - physiopathology</subject><subject>Follow-Up Studies</subject><subject>Genetics</subject><subject>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Infantile spasms</subject><subject>Medical sciences</subject><subject>Middle Aged</subject><subject>Nervous system (semeiology, syndromes)</subject><subject>Neurology</subject><subject>Neuropharmacology</subject><subject>Outcome</subject><subject>Pharmacology. Drug treatments</subject><subject>Retrospective Studies</subject><subject>Tuberous Sclerosis - complications</subject><subject>Tuberous Sclerosis - physiopathology</subject><subject>Tuberous sclerosis complex</subject><subject>Young Adult</subject><issn>0013-9580</issn><issn>1528-1167</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2010</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkU1v1DAQQC1URJfCX6h8qXpKGMffhyKhqkClSnAoZ8v2Ol2vskkaJ-3uv6_DLgucwBePNG9GM_MQwgRKkt-HdUl4pQpChCwrAF1CxSQrt6_Q4pg4QQsAQgvNFZyitymtAUAKSd-g01zDiGawQFf3q4BbO06DbfAqprEbdrircehjE_q0w7HF4-TC0E0JJ9_kIMWEfbfpm7B9h17Xtknh_eE_Qz8-39xffy3uvn25vf50V3gBhBU6qAAeoNYgFVdOKrfkQtuaOU6cU9J5ZwVb2gBca-m0IqKyljPFah7qQM_Qx33ffnKbsPShHfO8ph_ixg4709lo_s60cWUeuidDQXAqVG5weWgwdI9TSKPZxORD09g25M2MZExUAhT8m6RUawJKZFLtSZ9vkoZQH-chYGZNZm1mG2a2YWZN5qcms82l53_ucyz85SUDFwfAJm-berCtj-k3R4FWTJDMXe2556xr998DmJvvt3NEXwBoFq7R</recordid><startdate>201007</startdate><enddate>201007</enddate><creator>Chu‐Shore, Catherine J.</creator><creator>Major, Philippe</creator><creator>Camposano, Susana</creator><creator>Muzykewicz, David</creator><creator>Thiele, Elizabeth A.</creator><general>Blackwell Publishing Ltd</general><general>Wiley-Blackwell</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>7X8</scope><scope>7TK</scope><scope>5PM</scope></search><sort><creationdate>201007</creationdate><title>The natural history of epilepsy in tuberous sclerosis complex</title><author>Chu‐Shore, Catherine J. ; Major, Philippe ; Camposano, Susana ; Muzykewicz, David ; Thiele, Elizabeth A.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c6014-9e8e0c00f907858b78bd569af4b51bb87bcba64dae05997b98162aa5484f5efe3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2010</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Anticonvulsants. Antiepileptics. Antiparkinson agents</topic><topic>Biological and medical sciences</topic><topic>Child</topic><topic>Child, Preschool</topic><topic>Epilepsy</topic><topic>Epilepsy - etiology</topic><topic>Epilepsy - physiopathology</topic><topic>Follow-Up Studies</topic><topic>Genetics</topic><topic>Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Infantile spasms</topic><topic>Medical sciences</topic><topic>Middle Aged</topic><topic>Nervous system (semeiology, syndromes)</topic><topic>Neurology</topic><topic>Neuropharmacology</topic><topic>Outcome</topic><topic>Pharmacology. Drug treatments</topic><topic>Retrospective Studies</topic><topic>Tuberous Sclerosis - complications</topic><topic>Tuberous Sclerosis - physiopathology</topic><topic>Tuberous sclerosis complex</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Chu‐Shore, Catherine J.</creatorcontrib><creatorcontrib>Major, Philippe</creatorcontrib><creatorcontrib>Camposano, Susana</creatorcontrib><creatorcontrib>Muzykewicz, David</creatorcontrib><creatorcontrib>Thiele, Elizabeth A.</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>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Epilepsia (Copenhagen)</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Chu‐Shore, Catherine J.</au><au>Major, Philippe</au><au>Camposano, Susana</au><au>Muzykewicz, David</au><au>Thiele, Elizabeth A.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The natural history of epilepsy in tuberous sclerosis complex</atitle><jtitle>Epilepsia (Copenhagen)</jtitle><addtitle>Epilepsia</addtitle><date>2010-07</date><risdate>2010</risdate><volume>51</volume><issue>7</issue><spage>1236</spage><epage>1241</epage><pages>1236-1241</pages><issn>0013-9580</issn><eissn>1528-1167</eissn><coden>EPILAK</coden><abstract>Summary
Background: Although epilepsy affects most patients with tuberous sclerosis complex (TSC), little is known about the natural history of epilepsy in this genetic disease.
Methods: A retrospective chart review of all patients with TSC seen between January 2002 and October 2008. Charts were reviewed for a history of infantile spasms (IS), seizure other than IS, refractory epilepsy, Lennox‐Gastaut syndrome (LGS), anticonvulsant medication use, ages of seizure onset, last seizure, last clinic visit, clinical seizure phenotype(s), cognitive impairment, and genetic mutation.
Results: Two hundred ninety‐one patients were included. Among these patients, 37.8% had a history of IS; 85.2% had a history of seizure; 54.1% developed multiple seizure types, not including IS; 63.2% had seizure onset in the first year of life; and 12.1% of adults without a seizure history developed epilepsy. Of epilepsy patients, 62.5% developed refractory epilepsy and 33.5% achieved epilepsy remission; 37.5% of these patients achieved medication freedom. IS was a risk factor for refractory epilepsy (p<0.0001) and LGS (p<0.0001). History of seizure, IS, age at seizure onset, and refractory epilepsy each correlated with poor cognitive outcome (p<0.0001). Epilepsy remission correlated with better cognitive outcome (p<0.0001). TSC2 was a risk factor for IS and epilepsy; patients without an identified mutation were more likely to achieve remission.
Conclusion: Most patients with TSC develop epilepsy and most develop multiple seizure types. Onset typically occurs in the first year of life; however, adults remain at risk. Although refractory epilepsy is common, many patients achieve seizure control. Many features of seizure history are predictive of cognitive and epilepsy outcome.</abstract><cop>Oxford, UK</cop><pub>Blackwell Publishing Ltd</pub><pmid>20041940</pmid><doi>10.1111/j.1528-1167.2009.02474.x</doi><tpages>6</tpages><oa>free_for_read</oa></addata></record> |
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| source | Wiley Free Content; MEDLINE; IngentaConnect Free/Open Access Journals; Wiley Online Library Journals Frontfile Complete; EZB-FREE-00999 freely available EZB journals; Alma/SFX Local Collection |
| subjects | Adolescent Adult Anticonvulsants. Antiepileptics. Antiparkinson agents Biological and medical sciences Child Child, Preschool Epilepsy Epilepsy - etiology Epilepsy - physiopathology Follow-Up Studies Genetics Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy Humans Infant Infant, Newborn Infantile spasms Medical sciences Middle Aged Nervous system (semeiology, syndromes) Neurology Neuropharmacology Outcome Pharmacology. Drug treatments Retrospective Studies Tuberous Sclerosis - complications Tuberous Sclerosis - physiopathology Tuberous sclerosis complex Young Adult |
| title | The natural history of epilepsy in tuberous sclerosis complex |
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