Nature Genetics
36, 842 - 849 (2004)
Published online: 18 July 2004; | doi:10.1038/ng1393
Mutations in EFHC1 cause juvenile myoclonic epilepsyToshimitsu Suzuki, Antonio V Delgado-Escueta, Kripamoy Aguan, Maria E Alonso, Jun Shi, Yuji Hara, Motohiro Nishida, Tomohiro Numata, Marco T Medina, Tamaki Takeuchi, Ryoji Morita, Dongsheng Bai, Subramaniam Ganesh, Yoshihisa Sugimoto, Johji Inazawa, Julia N Bailey, Adriana Ochoa, Aurelio Jara-Prado, Astrid Rasmussen, Jaime Ramos-Peek, Sergio Cordova, Francisco Rubio-Donnadieu, Yushi Inoue, Makiko Osawa, Sunao Kaneko, Hirokazu Oguni, Yasuo Mori
& Kazuhiro YamakawaSupplementary Fig. 1 (pdf 26K)
Amino acid sequence of EFHC1 and evolutionary conservation of amino acids mutated in JME. Supplementary Fig. 2 (pdf 501K)
Expression of mouse Efhc1 transcripts and proteins. Supplementary Fig. 3 (pdf 643K)
No effect of VDCC antagonists on neurons expressing GFP-controls and binding of EFHC1 mutants to CaV2.3. Supplementary Table 1 (pdf 398K)
Modulation of activation and inactivation properties of CaV2.3 by EFH1 proteins.
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