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Author

F. Bibi

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Open access Aug 2026

Identification of a Novel homozygous Splice-Site Deletion in KCTD7 Gene Associated with Progressive Myoclonic Epilepsy

The particular phenotype that was observed in the patient is comparable to the ones that are described in the KCTD7 related pathologies, combined with segregation analysis indicating both parents carried the variant heterogeneously present is a strong indication that the identified mutation consists of probably pathogenic mutation.

S. Alharazy, Peter Natesan Pushparaj, Rose Jelani et al. · 0 citations
Open access Jul 2026

Exome Sequencing uncovers Homozygous Stop-Gained variant in the SYNE1 Gene Leading to Spinocerebellar Ataxia

This finding may represent the first reported Saudi family with a SYNE1 mutation associated with Autosomal Recessive Spinocerebellar Ataxia type 8 and Autosomal Recessive Cerebellar Ataxia type 1 and highlights the utility of molecular diagnostics.

A. Haque, M. Z. Alam, F. Bibi et al. · 0 citations