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S. Naz

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Open access Jan 2026

Compound Heterozygous ATM Variants Cause Adolescent‐Onset Cerebellar and Extrapyramidal Disease Without Telangiectasia in a Consanguineous Pakistani Family

The study expands the phenotypic heterogeneity of A–T and extends the allelic spectrum of ATM variants by recruiting a consanguineous Pakistani family with multiple individuals having adolescent‐onset ataxia.

Faiza Aslam, Weizhen Ji, L. Jeffries et al. · 0 citations
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