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.
| 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 |
