Although we have collected clinical data and are aware of a small number of NPTNpatients (±14), we have been able to further characterize seven of them. Therefore, the full clinical spectrum of NPTNmutations is still not completely known. So far, NPTNmutations seem to consistently trigger neurodevelopmental disorders, which is especially important to keep in mind when mutations are identified at a very young age.
The overall aims of our research are:
1. To identify additional patients with mutations in NPTN.
2. To characterize the clinical spectrum of NPTNpatients.
3. To collect EEG evaluations in both non-convulsive and convulsive NPTNpatients.
4. To generate and characterize preclinical animal models.
5. To explore potential molecular targets and future specific therapeutic strategies.
We request clinical and genetic information, ideally accompanied by photographs, to gain a deeper understanding of the clinical variability of NPTNmutations. Clinicians can submit data directly into the database or send it to the moderators via email.
Based on identified patients, we are currently generating and already studying developmental brain activities in Nptn mutant mice.
For deeper research, publications, and further engagement with the clinicians involved, please ensure written consent is obtained for the use and storage of medical information, with or without photographs.
NPTN