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EpiCARE Revised Orphanet Summaries

The Orphanet website provides disease summary texts that are primarily intended for healthcare professionals. They focus on clinically relevant information and with a particular focus on disease definition, diagnosis, clinical description and management of a rare disease.

The EpiCARE Revised Orphanet Summaries is included in the workpackage 2, Laboratory diagnostics.

You can find below the list of the most recently updated summaries in the field of epilepsy.

EpiCARE Revised Orphanet Summaries
ORPHAcode Disease name Last name of experts Publication date Available
778 Rett syndrome BAHI-BUISSON; NABBOUT; BRUNKLAUS 01/01/2021 Here
163703 Febrile infection-related epilepsy syndrome SPECCHIO; NABBOUT; STÖDBERG 01/01/2021 Here
3205 Sturge-Weber syndrome NABBOUT; KOTULSKA-JOZWIAK 01/01/2021 Here
805 Tuberous sclerosis complex ARZIMANOGLOU; NABBOUT; KOTULSKA-JOZWIAK 01/01/2021 Here
2382 Lennox-Gastaut syndrome SURGES; ARZIMANOGLOU; BAUMGARTNER; NABBOUT 01/04/2021 Here
1942 Myoclonic-astatic epilepsy VILLANUEVA; KAMINSKA; JANNONE-PEDRO 01/04/2021 Here
1444 Ring chromosome 20 syndrome WATSON; NABBOUT; DE GIORGIS 01/01/2021 Here
505652 CDKL5-related epileptic encephalopathy NABBOUT; CROSS; SPECCHIO; KÄLVIÄINEN 01/11/2019 Here
33069 Dravet syndrome NABBOUT; CHEMALY 01/04/2021 Here
544254 SYNGAP1-related developmental and epileptic encephalopathy NABBOUT; MATRICARDI 01/01/2021 Here