Article
DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy.
Epilepsia - 1 May 2009
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, Ortega Ramón H Castro, López-Ruiz Minerva, Rasmussen Astrid, Ochoa Adriana, Jara-Prado Aurelio, Yamakawa Kazuhiro, Delgado-Escueta Antonio V
Abstract excerpt
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 EFHC1 segregating as an autosomal dominant gene with 21 affected members of six Hispanic JME families from California...
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