#SiempreLuchandoContigo
banner
slc6a1-spain.bsky.social
#SiempreLuchandoContigo
@slc6a1-spain.bsky.social
Ass. de familias con hij@s con: #EncefalopatíaEpiléptica y del Desarrollo por la mutación del gen #SLC6A1

#EnfermedadRara infradiagnosticada (1/38.000)
We do not want to break the ✨magic of the name but,

as a #raredisease association we are here to advocate for the recognition of new 🧬 #geneticdiseases.

In our case, the disease is associated with #Doose syndrome but caused by the #SLC6A1 mutation and not so easy to spell for a name 😅
December 10, 2024 at 11:49 AM