{"doi":"10.1002/epi4.12450","title":"Clinical and genomic analysis of a large Chinese family with familial cortical myoclonic tremor with epilepsy and <i>SAMD12</i> intronic repeat expansion","abstract":"Abstract Objective Our goal was to perform detailed clinical and genomic analysis of a large multigenerational Chinese family with 21 individuals showing symptoms of Familial Cortical Myoclonic Tremor with Epilepsy (FCMTE) that we have followed for over 20 years. Methods Patients were subjected to clinical evaluation, routine EEG, and structural magnetic resonance imaging. Whole exome sequencing, repeat‐primed PCR, long‐range PCR, and PacBio sequencing were performed to characterize the disease‐causing mutation in this family. Results All evaluated patients manifested adult‐onset seizures and presented with progressive myoclonic postural tremors starting after the third or fourth decade of life. Seizures typically diminished markedly in frequency with implementation of antiseizure medications but did not completely cease. The electroencephalogram of affected individuals showed generalized or multifocal spikes and slow wave complexes. An expansion of TTTTA motifs with addition of TTTCA motifs in intron 4 of SAMD12 was identified to segregate with the disease phenotype in this family. Furthermore, we found that the mutant allele is unstable and can undergo both contraction and expansion by changes in the number of repeat motifs each time it is passed to the next generation. The size of mutant allele varied from 5 to 5.5 kb with 549‐603 copies of TTTTA and 287‐343 copies of TTTCA repeat motifs in this family. Significance Our study provides a detailed description of clinical progression of FCMTE symptoms and its management with antiseizure medications. Our method of repeat analysis by PacBio sequencing of long‐range PCR products does not require high‐quality DNA and hence can be easily applied to other families to elucidate any correlation between the repeat size and phenotypic variables, such as, age of onset, and severity of symptoms.","journal":"Epilepsia Open","year":2020,"id":73086,"datarank":0.6529140898024963,"base_score":2.70805020110221,"endowment":2.70805020110221,"self_citation_contribution":0.40620753016533157,"citation_network_contribution":0.24670655963716479,"self_endowment_contribution":0.40620753016533157,"citer_contribution":0.24670655963716479,"corpus_percentile":69.50568577396147,"corpus_rank":3943,"citation_count":14,"citer_count":13,"citers_with_citation_signal":10,"citers_with_endowment":10,"datacite_reuse_total":0,"is_dataset":true,"is_dataset_confidence":0.7348,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2020-01-01","fair_score":2.0833,"fair_percentile":1.4062977682665851,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":384997,"name":"Raman Sood","orcid":"0000-0001-5565-662X","position":1,"is_corresponding":false},{"id":384998,"name":"Qun Wang","orcid":"0000-0002-8616-2670","position":2,"is_corresponding":false},{"id":384999,"name":"Blake Carrington","orcid":"0000-0002-1672-1887","position":3,"is_corresponding":false},{"id":20064,"name":"Morgan Park","orcid":null,"position":4,"is_corresponding":false},{"id":20066,"name":"Alice C. Young","orcid":"0000-0003-0549-9261","position":5,"is_corresponding":false},{"id":385000,"name":"Daniel Birnbaum","orcid":"0000-0001-6605-0551","position":6,"is_corresponding":false},{"id":385001,"name":"Zhao Liu","orcid":"0000-0001-9529-3720","position":7,"is_corresponding":false},{"id":380178,"name":"Tetsuo Ashizawa","orcid":"0000-0001-7180-2869","position":8,"is_corresponding":false},{"id":7693,"name":"James C. Mullikin","orcid":"0000-0003-0825-3750","position":9,"is_corresponding":false},{"id":342557,"name":"Mohamad Z. Koubeissi","orcid":"0000-0002-8581-8906","position":10,"is_corresponding":false},{"id":232072,"name":"Paul Liu","orcid":"0000-0002-6779-025X","position":11,"is_corresponding":false},{"id":386342,"name":"Yongxing Zhou","orcid":null,"position":0,"is_corresponding":true}],"reference_count":37,"raw_metadata":null,"created_at":"2026-07-18T21:45:32.034078Z","pmid":"33681653","pmcid":"PMC7918340","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":11.1111,"fair_a":18.75,"fair_i":0.0,"fair_r":20.8333,"fair_zscore":-1.2811,"fair_rationale":{"fair_score":2.08,"has_llm":true,"taxonomy_version":"fair_taxonomy_v5","dimensions":{"F":{"name":"Findable","score":11.11,"criteria":[{"key":"f_dataset_pid","label":"Persistent identifier for the data","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No persistent identifier (DOI, Handle, ARK, URN, or repository accession) is given for the study's own dataset.","anchors":["RDA-F1-01D — FAIR Data Maturity Model: 'Data is identified by a persistent identifier' (priorit","RDA-F1-02D — FAIR Data Maturity Model: 'Data is identified by a globally unique identifier'","FsF-F1-02D — F-UJI/FAIRsFAIR: 'Data is assigned a persistent identifier'"],"scored":true,"signal":null},{"key":"f_repository_named","label":"Named repository","kind":"llm","weight":2.0,"fraction":0.0,"verdict":"no","evidence":null,"grounded":false,"rationale":"No repository is named as the holder of the data; the data are only available on request from the authors.","anchors":["RDA-F4-01M — FAIR Data Maturity Model: metadata is offered so it can be harvested and indexed (","NIH DMS Policy Element 4 (NOT-OD-21-014) — name the repository where data will be archived","NSTC Desirable Characteristics of Data Repositories (2022) — 'Long-Term Sustainability', 'Reten"],"scored":true,"signal":null},{"key":"f_data_availability_statement","label":"Data-availability statement","kind":"llm","weight":2.0,"fraction":0.5,"verdict":"partial","evidence":"Anonymized data from whole exome sequencing and PacBio sequencing will be shared by request from any qualified investigator.","grounded":true,"rationale":"The data availability statement is Colavizza category 1 (data available on request), which points to a person rather than a repository record. 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