ArticleMovement disorders : official journal of the Movement Disorder Society2025
A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.
Article in Movement disorders : official journal of the Movement Disorder Society, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Long-read sequencing technologies and bioinformatics: a new perspective for decoding DNA methylation modifications.Journal of translational medicine · 2026Review
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14 authors.
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Abstract
backgroundProgressive myoclonic epilepsy is a heterogeneous neurodegenerative disorder characterized by early-onset myoclonus, epilepsy, generalized tonic-clonic seizures, and progressive neurological deterioration. Recently, a CGG repeat expansion and increased CSNK1E DNA methylation have been shown to be associated with developmental and epileptic encephalopathies.
objectiveTo identify structural variants or repeat expansions associated with progressive myoclonic epilepsy in an Azerbaijani family using long-read sequencing.
methodsKnown genetic causes of progressive myoclonic epilepsy were ruled out through quadro-exome sequencing in an individual exhibiting tonic-clonic seizures, dementia, and cerebellar ataxia with an age at onset of 10 years. After ruling out the presence of any other pathogenic mutation, long-read whole genome sequencing was performed to investigate structural variants or repeat expansions potentially associated with the disease.
resultsWe identified a heterozygous expanded (CGG)
conclusionsWe suggest the association of the CSNK1E-CGG expansion with incomplete penetrance in an Azerbaijani case with progressive myoclonic epilepsy, broadening its phenotypic spectrum. Our findings support the utility of long-read sequencing and methylation analysis as powerful approaches to identifying and characterizing disease-associated expanded repeats. © 2025 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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