A Chinese Benign Adult Familial Myoclonic Epilepsy Pedigree Suggesting Linkage to Chromosome 5p15.31–p15.1

Jia Li1, Xinyu Hu2, Qiuhui Chen1, Yizhi Zhang1, Ying Zhang1, Guohua Hu1
1Department of Neurology, the Second Hospital of Jilin University, 218 Ziqiang Road, Changchun, 130041, Jinlin, China
2Department of Neurology, The First Hospital of Jilin University, Changchun, China

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Striano, P., de Falco, F. A., Minetti, C., & Zara, F. (2009). Familial benign nonprogressive myoclonic epilepsies. Epilepsia, 50(Suppl 5), 37–40.

Elia, M., Musumeci, S. A., Ferri, R., Scuderi, C., Del Gracco, S., & Bottitta, M. (1998). Familial cortical tremor, epilepsy, and mental retardation: a distinct clinical entity. Archives of Neurology, 55, 1569–1573.

Saka, E., & Saygi, S. (2000). Familial adult onset myoclonic epilepsy associated with migraine. Seizure, 9, 344–346.

Manabe, Y., Narai, H., Warita, H., Hayashi, T., Shiro, Y., & Sakai, K. (2002). Benign adult familial myoclonic epilepsy (BAFME) with night blindness. Seizure, 11, 266–268.

Regragui, W., Gerdelat-Mas, A., & Simonetta-Moreau, M. (2006). Cortical tremor (FCMTE: familial cortical myoclonic tremor with epilepsy). Neurophysiologie Clinique, 36, 345–349.

Ikeda, A., Kakigi, R., Funai, N., Neshige, R., Kuroda, Y., & Shibasaki, H. (1990). Cortical tremor: a variant of cortical reflex myoclonus. Neurology, 40, 1561–1565.

Yasuda, T. (1991). Benign adult familial myoclonic epilepsy (BAFME). Kawasaki Medical Journal, 17, 1–13.

Mikami, M., Yasuda, T., Terao, A., et al. (1999). Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3–q24.1. American Journal of Human Genetics, 65(3), 745–751.

Striano, P., Chifari, R., Strino, S., et al. (2004). A new benign adult familial myoclonic epilepsy (BAFME) pedigree suggesting linkage to chromosome 2p11.1-q12.2. Epilepsia, 45, 190–192.

Depienne, C., Magnin, E., Bouteiller, D., et al. (2010). Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p. Neurology, 74(24), 2000–2003.

Yeetong, P., Ausavarat, S., Bhidayasiri, R., et al. (2013). A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32–3q28. European Journal of Human Genetics, 21(2), 225–228.

Li, J. L., Deng, H., Lai, D. B., Xu, F., Chen, J., & Gao, G. (2001). Toward high-through put genotyping: dynamic and automatic software for manipulating large-scalegenotype data using fluorescently labeled dinucleotide markers. Genome Research, 11, 1304–1314.

Teive, H. A. (2009). Spinocerebellar ataxias. Arquivos de Neuro-Psiquiatria, 67, 1133–1142.

Singh, N. A., Charlier, C., Stauffer, D., et al. (1998). A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of new borns. Nature Genetics, 18, 25–29.