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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...

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Main Authors: Urban, Oliver Y. (Author) , Driedger, Jan Henje (Author) , Garbade, Sven (Author) , Hoffmann, Georg F. (Author) , Kölker, Stefan (Author) , Ries, Markus (Author) , Syrbe, Steffen (Author)
Format: Article (Journal)
Language:English
Published: 04 December 2024
In: Orphanet journal of rare diseases
Year: 2024, Volume: 19, Pages: 1-11
ISSN:1750-1172
DOI:10.1186/s13023-024-03375-8
Online Access: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
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Author Notes:Oliver Y. Urban, Jan H. Driedger, Sven F. Garbade, Georg F. Hoffmann, Stefan Kölker, Markus Ries and Steffen Syrbe
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Summary: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.
Item Description:Gesehen am 09.12.2024
Physical Description:Online Resource
ISSN:1750-1172
DOI:10.1186/s13023-024-03375-8

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