Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy.

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