Jun 2026
A CLN8 biallelic missense variant causes epilepsy with severe treatment-resistant psychosis
In-silico analysis indicated that substitution of tryptophan with cysteine resulted in the loss of an intramolecular interaction, which may affect protein folding, and emphasizes that CLN8-related phenotype can include severe treatment-resistant psychosis and also provides a genotypic extension.
Rimsha Zulfiqar, A. Kanwal, Maham Hameed et al.
· Zeitschrift für Induktive Ab... · 0 citations