OBJECTIVES: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene. MATERIALS AND METHODS: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers. RESULTS: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME. CONCLUSIONS: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
OBJECTIVES: Mutations in the EFHC1 gene have been reported in six juvenile myoclonic epilepsy (JME) families from Mexico and Belize. In this study, we screened 27 unrelated JME Italian families for mutations in the EFHC1 gene. MATERIALS AND METHODS: Twenty-seven families (86 affected individuals, 52 women) with at least two affected members with JME were selected. DNA was isolated from peripheral blood lymphocytes by standard methods and each exon of the EFHC1 gene was amplified and sequenced using intronic primers. RESULTS: Two heterozygous mutations were identified in three unrelated families. One (R353 W) was a novel missense mutation, while the F229 L mutation was previously described (say which on of the two occurred in two families). Both mutations cosegregated with the disease. In a fourth family, the variant 545G-->A (resulting in the amino acid substitution R182 H) cosegregated with JME. CONCLUSIONS: The results of our study extend the distribution of EFHC1 mutations to the white population and confirm the high level of genetic heterogeneity associated with JME.
Authors: Dongsheng Bai; Julia N Bailey; Reyna M Durón; María E Alonso; Marco T Medina; Iris E Martínez-Juárez; Toshimitsu Suzuki; Jesús Machado-Salas; Ricardo Ramos-Ramírez; Miyabi Tanaka; Ramón H Castro Ortega; Minerva López-Ruiz; Astrid Rasmussen; Adriana Ochoa; Aurelio Jara-Prado; Kazuhiro Yamakawa; Antonio V Delgado-Escueta Journal: Epilepsia Date: 2009-05 Impact factor: 5.864
Authors: Laurence de Nijs; Nathalie Wolkoff; Bernard Coumans; Antonio V Delgado-Escueta; Thierry Grisar; Bernard Lakaye Journal: Hum Mol Genet Date: 2012-08-27 Impact factor: 6.150
Authors: Jenny E Wight; Viet-Huong Nguyen; Marco T Medina; Christopher Patterson; Reyna M Durón; Yolly Molina; Yu-Chen Lin; Iris E Martínez-Juárez; Adriana Ochoa; Aurelio Jara-Prado; Miyabi Tanaka; Dongsheng Bai; Sumaya Aftab; Julia N Bailey; Antonio V Delgado-Escueta Journal: Mol Genet Genomic Med Date: 2016-01-23 Impact factor: 2.183
Authors: Julia N Bailey; Christopher Patterson; Laurence de Nijs; Reyna M Durón; Viet-Huong Nguyen; Miyabi Tanaka; Marco T Medina; Aurelio Jara-Prado; Iris E Martínez-Juárez; Adriana Ochoa; Yolli Molina; Toshimitsu Suzuki; María E Alonso; Jenny E Wight; Yu-Chen Lin; Laura Guilhoto; Elza Marcia Targas Yacubian; Jesús Machado-Salas; Andrea Daga; Kazuhiro Yamakawa; Thierry M Grisar; Bernard Lakaye; Antonio V Delgado-Escueta Journal: Genet Med Date: 2016-07-28 Impact factor: 8.822
Authors: Ingo Marenholz; Jorge Esparza-Gordillo; Franz Rüschendorf; Anja Bauerfeind; David P Strachan; Ben D Spycher; Hansjörg Baurecht; Patricia Margaritte-Jeannin; Annika Sääf; Marjan Kerkhof; Markus Ege; Svetlana Baltic; Melanie C Matheson; Jin Li; Sven Michel; Wei Q Ang; Wendy McArdle; Andreas Arnold; Georg Homuth; Florence Demenais; Emmanuelle Bouzigon; Cilla Söderhäll; Göran Pershagen; Johan C de Jongste; Dirkje S Postma; Charlotte Braun-Fahrländer; Elisabeth Horak; Ludmila M Ogorodova; Valery P Puzyrev; Elena Yu Bragina; Thomas J Hudson; Charles Morin; David L Duffy; Guy B Marks; Colin F Robertson; Grant W Montgomery; Bill Musk; Philip J Thompson; Nicholas G Martin; Alan James; Patrick Sleiman; Elina Toskala; Elke Rodriguez; Regina Fölster-Holst; Andre Franke; Wolfgang Lieb; Christian Gieger; Andrea Heinzmann; Ernst Rietschel; Thomas Keil; Sven Cichon; Markus M Nöthen; Craig E Pennell; Peter D Sly; Carsten O Schmidt; Anja Matanovic; Valentin Schneider; Matthias Heinig; Norbert Hübner; Patrick G Holt; Susanne Lau; Michael Kabesch; Stefan Weidinger; Hakon Hakonarson; Manuel A R Ferreira; Catherine Laprise; Maxim B Freidin; Jon Genuneit; Gerard H Koppelman; Erik Melén; Marie-Hélène Dizier; A John Henderson; Young Ae Lee Journal: Nat Commun Date: 2015-11-06 Impact factor: 14.919