Systematic quantitative modeling of the natural history of Aicardi syndrome: a cross sectional study of 245 published cases
Aicardi syndrome is a rare epileptic encephalopathy, almost exclusively affecting girls. It was first described as a triad of infantile spasms, chorioretinal defects and agenesis of the corpus callosum. The etiology remains unknown and there is uncertainty on best practice therapy and outcome. We ai...
Gespeichert in:
| Hauptverfasser: | , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
04 December 2024
|
| In: |
Orphanet journal of rare diseases
Year: 2024, Jahrgang: 19, Pages: 1-11 |
| ISSN: | 1750-1172 |
| DOI: | 10.1186/s13023-024-03375-8 |
| Online-Zugang: | Resolving-System, kostenfrei, Volltext: https://doi.org/10.1186/s13023-024-03375-8 Verlag, kostenfrei, Volltext: https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03375-8 
|
| Verfasserangaben: | Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and Steffen Syrbe |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1911186000 | ||
| 003 | DE-627 | ||
| 005 | 20250716214503.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 241209s2024 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1186/s13023-024-03375-8 |2 doi | |
| 035 | |a (DE-627)1911186000 | ||
| 035 | |a (DE-599)KXP1911186000 | ||
| 035 | |a (OCoLC)1528014677 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Urban, Oliver Y. |e VerfasserIn |0 (DE-588)1350492191 |0 (DE-627)1911186523 |4 aut | |
| 245 | 1 | 0 | |a Systematic quantitative modeling of the natural history of Aicardi syndrome |b a cross sectional study of 245 published cases |c Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and Steffen Syrbe |
| 264 | 1 | |c 04 December 2024 | |
| 300 | |b Illustrationen | ||
| 300 | |a 11 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Gesehen am 09.12.2024 | ||
| 520 | |a Aicardi syndrome is a rare epileptic encephalopathy, almost exclusively affecting girls. It was first described as a triad of infantile spasms, chorioretinal defects and agenesis of the corpus callosum. The etiology remains unknown and there is uncertainty on best practice therapy and outcome. We aimed at defining quantitative clinical endpoints that will inform future research and clinical trials. | ||
| 650 | 4 | |a Agenesis of corpus callosum | |
| 650 | 4 | |a Aicardi syndrome | |
| 650 | 4 | |a Chorioretinal lacunae | |
| 650 | 4 | |a Epileptic encephalopathy | |
| 650 | 4 | |a Infantile spasms | |
| 650 | 4 | |a Natural history | |
| 700 | 1 | |a Driedger, Jan Henje |d 1983- |e VerfasserIn |0 (DE-588)1046803549 |0 (DE-627)777061643 |0 (DE-576)400131404 |4 aut | |
| 700 | 1 | |a Garbade, Sven |d 1971- |e VerfasserIn |0 (DE-588)129234362 |0 (DE-627)707186889 |0 (DE-576)297554263 |4 aut | |
| 700 | 1 | |a Hoffmann, Georg F. |d 1957- |e VerfasserIn |0 (DE-588)115652868 |0 (DE-627)077386116 |0 (DE-576)261230042 |4 aut | |
| 700 | 1 | |a Kölker, Stefan |e VerfasserIn |0 (DE-588)1022937758 |0 (DE-627)717335771 |0 (DE-576)366197568 |4 aut | |
| 700 | 1 | |a Ries, Markus |d 1971- |e VerfasserIn |0 (DE-588)136385338 |0 (DE-627)582068479 |0 (DE-576)300993358 |4 aut | |
| 700 | 1 | |a Syrbe, Steffen |d 1976- |e VerfasserIn |0 (DE-588)133581926 |0 (DE-627)691603138 |0 (DE-576)272999482 |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Orphanet journal of rare diseases |d London : BioMed Central, 2006 |g 19(2024), Artikel-ID 457, Seite 1-11 |h Online-Ressource |w (DE-627)50900637X |w (DE-600)2225857-7 |w (DE-576)260614424 |x 1750-1172 |7 nnas |a Systematic quantitative modeling of the natural history of Aicardi syndrome a cross sectional study of 245 published cases |
| 773 | 1 | 8 | |g volume:19 |g year:2024 |g elocationid:457 |g pages:1-11 |g extent:11 |a Systematic quantitative modeling of the natural history of Aicardi syndrome a cross sectional study of 245 published cases |
| 856 | 4 | 0 | |u https://doi.org/10.1186/s13023-024-03375-8 |x Resolving-System |x Verlag |z kostenfrei |3 Volltext |
| 856 | 4 | 0 | |u https://ojrd.biomedcentral.com/articles/10.1186/s13023-024-03375-8 |x Verlag |z kostenfrei |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20241209 | ||
| 993 | |a Article | ||
| 994 | |a 2024 | ||
| 998 | |g 133581926 |a Syrbe, Steffen |m 133581926:Syrbe, Steffen |d 910000 |d 910500 |d 50000 |e 910000PS133581926 |e 910500PS133581926 |e 50000PS133581926 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 7 |y j | ||
| 998 | |g 136385338 |a Ries, Markus |m 136385338:Ries, Markus |d 910000 |d 910500 |d 50000 |e 910000PR136385338 |e 910500PR136385338 |e 50000PR136385338 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 6 | ||
| 998 | |g 1022937758 |a Kölker, Stefan |m 1022937758:Kölker, Stefan |d 910000 |d 910500 |d 50000 |e 910000PK1022937758 |e 910500PK1022937758 |e 50000PK1022937758 |k 0/910000/ |k 1/910000/910500/ |k 0/50000/ |p 5 | ||
| 998 | |g 115652868 |a Hoffmann, Georg F. |m 115652868:Hoffmann, Georg F. |d 910000 |d 910500 |e 910000PH115652868 |e 910500PH115652868 |k 0/910000/ |k 1/910000/910500/ |p 4 | ||
| 998 | |g 129234362 |a Garbade, Sven |m 129234362:Garbade, Sven |d 910000 |d 910500 |e 910000PG129234362 |e 910500PG129234362 |k 0/910000/ |k 1/910000/910500/ |p 3 | ||
| 998 | |g 1046803549 |a Driedger, Jan Henje |m 1046803549:Driedger, Jan Henje |d 910000 |d 910500 |e 910000PD1046803549 |e 910500PD1046803549 |k 0/910000/ |k 1/910000/910500/ |p 2 | ||
| 998 | |g 1350492191 |a Urban, Oliver Y. |m 1350492191:Urban, Oliver Y. |d 50000 |e 50000PU1350492191 |k 0/50000/ |p 1 |x j | ||
| 999 | |a KXP-PPN1911186000 |e 4633307479 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"recId":"1911186000","note":["Gesehen am 09.12.2024"],"origin":[{"dateIssuedDisp":"04 December 2024","dateIssuedKey":"2024"}],"name":{"displayForm":["Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and Steffen Syrbe"]},"id":{"doi":["10.1186/s13023-024-03375-8"],"eki":["1911186000"]},"title":[{"title":"Systematic quantitative modeling of the natural history of Aicardi syndrome","title_sort":"Systematic quantitative modeling of the natural history of Aicardi syndrome","subtitle":"a cross sectional study of 245 published cases"}],"relHost":[{"pubHistory":["1.2006 -"],"id":{"zdb":["2225857-7"],"eki":["50900637X"],"issn":["1750-1172"]},"physDesc":[{"extent":"Online-Ressource"}],"title":[{"title_sort":"Orphanet journal of rare diseases","title":"Orphanet journal of rare diseases","subtitle":"OJRD"}],"type":{"media":"Online-Ressource","bibl":"periodical"},"language":["eng"],"part":{"text":"19(2024), Artikel-ID 457, Seite 1-11","year":"2024","volume":"19","pages":"1-11","extent":"11"},"note":["Gesehen am 01.09.10"],"recId":"50900637X","origin":[{"dateIssuedKey":"2006","dateIssuedDisp":"2006-","publisher":"BioMed Central","publisherPlace":"London"}],"disp":"Systematic quantitative modeling of the natural history of Aicardi syndrome a cross sectional study of 245 published casesOrphanet journal of rare diseases"}],"physDesc":[{"noteIll":"Illustrationen","extent":"11 S."}],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"given":"Oliver Y.","role":"aut","display":"Urban, Oliver Y.","family":"Urban"},{"given":"Jan Henje","role":"aut","display":"Driedger, Jan Henje","family":"Driedger"},{"role":"aut","given":"Sven","family":"Garbade","display":"Garbade, Sven"},{"family":"Hoffmann","display":"Hoffmann, Georg F.","role":"aut","given":"Georg F."},{"family":"Kölker","display":"Kölker, Stefan","role":"aut","given":"Stefan"},{"role":"aut","given":"Markus","family":"Ries","display":"Ries, Markus"},{"display":"Syrbe, Steffen","family":"Syrbe","given":"Steffen","role":"aut"}]} | ||
| SRT | |a URBANOLIVESYSTEMATIC0420 | ||