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Author

Maham Hameed

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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. · 0 citations

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