A CGG Repeat Expansion in CSNK1E Associated with Progressive Myoclonic Epilepsy with Incomplete Penetrance.

ABSTRACT:

Background

Progressive 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.

Objective

To identify structural variants or repeat expansions associated with progressive myoclonic epilepsy in an Azerbaijani family using long-read sequencing.

Methods

Known 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

SUBMITTER: Akcimen F 

PROVIDER: S-EPMC12661629 | biostudies-literature | 2025 Nov

REPOSITORIES: biostudies-literature