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May 27, 2008; 70 (22 Part 2) Articles

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

M. T. Medina, T. Suzuki, M. E. Alonso, R. M. Durón, I. E. Martínez-Juárez, J. N. Bailey, D. Bai, Y. Inoue, I. Yoshimura, S. Kaneko, M. C. Montoya, A. Ochoa, A. Jara Prado, M. Tanaka, J. Machado-Salas, S. Fujimoto, M. Ito, S. Hamano, K. Sugita, Y. Ueda, M. Osawa, H. Oguni, F. Rubio-Donnadieu, K. Yamakawa, A. V. Delgado-Escueta
First published May 27, 2008, DOI: https://doi.org/10.1212/01.wnl.0000313149.73035.99
M. T. Medina
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T. Suzuki
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M. E. Alonso
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R. M. Durón
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I. E. Martínez-Juárez
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J. N. Bailey
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D. Bai
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Y. Inoue
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I. Yoshimura
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S. Kaneko
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M. C. Montoya
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A. Ochoa
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A. Jara Prado
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M. Tanaka
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J. Machado-Salas
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S. Fujimoto
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M. Ito
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S. Hamano
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K. Sugita
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Y. Ueda
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M. Osawa
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H. Oguni
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K. Yamakawa
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A. V. Delgado-Escueta
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Citation
Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
M. T. Medina, T. Suzuki, M. E. Alonso, R. M. Durón, I. E. Martínez-Juárez, J. N. Bailey, D. Bai, Y. Inoue, I. Yoshimura, S. Kaneko, M. C. Montoya, A. Ochoa, A. Jara Prado, M. Tanaka, J. Machado-Salas, S. Fujimoto, M. Ito, S. Hamano, K. Sugita, Y. Ueda, M. Osawa, H. Oguni, F. Rubio-Donnadieu, K. Yamakawa, A. V. Delgado-Escueta
Neurology May 2008, 70 (22 Part 2) 2137-2144; DOI: 10.1212/01.wnl.0000313149.73035.99

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Abstract

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 of chromosome 6p12.1 segregating in 20% of Hispanic families with JME.

Objective: To examine what percentage of consecutive JME clinic cases have mutations in Myoclonin1/EFHC1.

Methods: We screened 44 consecutive patients from Mexico and Honduras and 67 patients from Japan using heteroduplex analysis and direct sequencing.

Results: We found five novel mutations in transcripts A and B of Myoclonin1/EFHC1. 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.

Conclusion: Nine percent of consecutive juvenile myoclonic epilepsy cases from Mexico and Honduras clinics and 3% of clinic patients from Japan carry mutations in Myoclonin1/EFCH1. These results represent the highest number and percentage of mutations found for a juvenile myoclonic epilepsy causing gene of any population group.

GLOSSARY: CAE = childhood absence epilepsy; FS = febrile seizures in infancy/childhood; GM = grand mal tonic clonic seizure; JME = Juvenile myoclonic epilepsy; PSW = 3–6 Hz polyspike and slow wave complexes; SW = single spike and slow wave complex.

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