Mutations in EFHC1 cause juvenile myoclonic epilepsy

Author:

Suzuki Toshimitsu,Delgado-Escueta Antonio V,Aguan Kripamoy,Alonso Maria E,Shi Jun,Hara Yuji,Nishida Motohiro,Numata Tomohiro,Medina Marco T,Takeuchi Tamaki,Morita Ryoji,Bai Dongsheng,Ganesh Subramaniam,Sugimoto Yoshihisa,Inazawa Johji,Bailey Julia N,Ochoa Adriana,Jara-Prado Aurelio,Rasmussen Astrid,Ramos-Peek Jaime,Cordova Sergio,Rubio-Donnadieu Francisco,Inoue Yushi,Osawa Makiko,Kaneko Sunao,Oguni Hirokazu,Mori Yasuo,Yamakawa Kazuhiro

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Reference29 articles.

1. Janz, D.C.W. Impusive-petit mal. J. Neurol. 176, 344–386 (1957).

2. Delgado-Escueta, A.V. et al. Mapping and positional cloning of common idiopathic generalized epilepsies: juvenile myoclonus epilepsy and childhood absence epilepsy. Adv. Neurol. 79, 351–374 (1999).

3. Liu, A.W. et al. Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait. Am. J. Hum. Genet. 57, 368–381 (1995).

4. Liu, A.W. et al. Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations. Am. J. Med. Genet. 63, 438–446 (1996).

5. Bai, D. et al. Juvenile myoclonic epilepsy: Linkage to chromosome 6p12 in Mexico families. Am. J. Med. Genet. 113, 268–274 (2002).

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