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• W2112661254 abstract "<b>Background: </b> Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, the GENESS Consortium demonstrated four missense mutations in <i>Myoclonin1/EFHC1</i> of chromosome 6p12.1 segregating in 20% of Hispanic families with JME. <b>Objective: </b> To examine what percentage of consecutive JME clinic cases have mutations in <i>Myoclonin1/EFHC1</i>. <b>Methods: </b> We screened 44 consecutive patients from Mexico and Honduras and 67 patients from Japan using heteroduplex analysis and direct sequencing. <b>Results: </b> We found five novel mutations in transcripts A and B of <i>Myoclonin1/EFHC1</i>. Two novel heterozygous missense mutations (c.755C>A and c.1523C>G) in transcript A occurred in both a singleton from Mexico and another singleton from Japan. A deletion/frameshift (C.789del.AV264fsx280) in transcript B was present in a mother and daughter from Mexico. A nonsense mutation (c.829C>T) in transcript B segregated in four clinically and seven epileptiform-EEG affected members of a large Honduran family. The same nonsense mutation (c.829C>T) occurred as a de novo mutation in a sporadic case. Finally, we found a three-base deletion (−364○%–362del.GAT) in the promoter region in a family from Japan. <b>Conclusion: </b> Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in <i>Myoclonin1/EFCH1</i>. These results represent the highest number and percentage of mutations found for a juvenile myoclonic epilepsy causing gene of any population group. <b>GLOSSARY: </b><b>CAE</b> = childhood absence epilepsy; <b>FS</b> = febrile seizures in infancy/childhood; <b>GM</b> = grand mal tonic clonic seizure; <b>JME</b> = Juvenile myoclonic epilepsy; <b>PSW</b> = 3–6 Hz polyspike and slow wave complexes; <b>SW</b> = single spike and slow wave complex." @default.
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• W2112661254 date "2008-05-27" @default.
• W2112661254 modified "2023-10-16" @default.
• W2112661254 title "Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy" @default.
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• W2112661254 doi "https://doi.org/10.1212/01.wnl.0000313149.73035.99" @default.
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