DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy

PURPOSE: Juvenile myoclonic epilepsy (JME) accounts for 3 to 12% of all epilepsies. In 2004, we identified a mutation-harboring Mendelian gene that encodes a protein with one EF-hand motif (EFHC1) in chromosome 6p12. We observed one doubly heterozygous and three heterozygous missense mutations in EF...

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Detaylı Bibliyografya
Yayımlandı:Epilepsia
Asıl Yazarlar: Bai, Dongsheng, Bailey, Julia N., Durón, Reyna M., Alonso, María E., Medina, Marco T., Martínez-Juárez, Iris E., Suzuki, Toshimitsu, Machado-Salas, Jesús, Ramos-Ramírez, Ricardo, Tanaka, Miyabi, Castro Ortega, Ramón H., López-Ruiz, Minerva, Rasmussen, Astrid, Ochoa, Adriana, Jara-Prado, Aurelio, Yamakawa, Kazuhiro, Delgado-Escueta, Antonio V.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: 2009
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC4607268/
https://ncbi.nlm.nih.gov/pubmed/18823326
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1528-1167.2008.01762.x
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