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CLN8 Gene Compound Heterozygous Variants: A New Case and Protein Bioinformatics Analyses.

Genes - 5 Aug 2022

Sharkia Rajech, Zalan Abdelnaser, Zahalka Hazar, Kessel Amit, Asaly Ayman, Al-Shareef Wasif, Mahajnah Muhammad

Abstract excerpt

The CLN8 disease type refers to one of the neuronal ceroid lipofuscinoses (NCLs) which are the most common group of neurodegenerative diseases in childhood. The clinical phenotypes of this disease are progressive neurological deterioration that could lead to seizures, dementia, ataxia, visual failure, and various forms of abnormal movement. In the current study, we describe two patients who presented with...

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PMID: 36011304
DOI: 10.3390/genes13081393
PMCID: PMC9407845

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