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; 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