{"doi":"10.1002/mds.30326","title":"A <scp>CGG</scp> Repeat Expansion in <scp> <i>CSNK1E</i> </scp> 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 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. RESULTS: repeat in exon 1 of CSNK1E in the proband (longest repeat length, n = 745) and her unaffected sister (longest repeat length, n = 980). The unaffected father was wild-type, while the unaffected mother had an intermediate-sized repeat expansion (n = 131), which might have expanded to a pathogenic length in the siblings upon transmission. The expanded allele exhibited higher methylation levels than the wild-type, with globally elevated methylation in both siblings compared with parental samples. CONCLUSIONS: We 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.","journal":"Movement Disorders","year":2025,"id":571501,"datarank":0.0,"base_score":0.0,"endowment":0.0,"self_citation_contribution":0.0,"citation_network_contribution":0.0,"self_endowment_contribution":0.0,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":0,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.963,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":681359,"name":"Pilar Álvarez Jerez","orcid":"0000-0002-5812-1898","position":1,"is_corresponding":false},{"id":882508,"name":"Ulviyya Guliyeva","orcid":"0000-0003-3834-336X","position":2,"is_corresponding":false},{"id":294073,"name":"Jasmine Lee","orcid":"0000-0002-3015-2975","position":3,"is_corresponding":false},{"id":958501,"name":"Laksh Malik","orcid":"0000-0002-2498-146X","position":4,"is_corresponding":false},{"id":1017521,"name":"Breeana Baker","orcid":null,"position":5,"is_corresponding":false},{"id":445799,"name":"Kamran Salayev","orcid":"0000-0001-9597-5035","position":6,"is_corresponding":false},{"id":1429530,"name":"Sughra Guliyeva","orcid":null,"position":7,"is_corresponding":false},{"id":279270,"name":"Kimberley J. Billingsley","orcid":"0000-0002-8003-4029","position":8,"is_corresponding":false},{"id":52692,"name":"Henry Houlden","orcid":"0000-0002-2866-7777","position":9,"is_corresponding":false},{"id":6975,"name":"Andrew B. Singleton","orcid":null,"position":10,"is_corresponding":false},{"id":252390,"name":"Cornelis Blauwendraat","orcid":"0000-0001-9358-8111","position":11,"is_corresponding":false},{"id":230757,"name":"Sara Bandrés‐Ciga","orcid":"0000-0003-0056-1361","position":12,"is_corresponding":false},{"id":325970,"name":"Rauan Kaiyrzhanov","orcid":"0000-0003-1640-4010","position":13,"is_corresponding":false},{"id":347580,"name":"Fulya Akçimen","orcid":"0000-0003-0931-5247","position":0,"is_corresponding":true}],"reference_count":46,"raw_metadata":null,"created_at":"2026-07-19T02:57:15.755535Z","pmid":"40751262","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}