Genetics of Epilepsy

Ozlem Cokar, Charlotte Dravet, Hirokazu Oguni, Michelle Bureau, Yukio Fukuyama, Severe myoclonic epilepsy in infancy: Dravet syndrome. Advances in Neurology. ,vol. 95, pp. 71- 102 ,(2005)

Jan Wauters, Jurgen Del-Favero, Peter De Jonghe, Lieve R.F. Claes, Arvid Suls, Kristl G. Claeys, Dirk Goossens, Boris Harding, Rob Van Luijk, Stefaan Scheers, Liesbet Deprez, Dominique Audenaert, Tine Van Dyck, Sabine Beeckmans, Iris Smouts, Berten Ceulemans, Lieven Lagae, Gunnar Buyse, Nina Barisic, Jean-Paul Misson, Microdeletions involving the SCN1A gene may be common in SCN1A-mutation-negative SMEI patients† Human Mutation. ,vol. 27, pp. 914- 920 ,(2006) , 10.1002/HUMU.20350

Yucai Chen, Jianjun Lu, Hong Pan, Yuehua Zhang, Husheng Wu, Keming Xu, Xiaoyan Liu, Yuwu Jiang, Xinhua Bao, Zhijian Yao, Keyue Ding, Wilson HY Lo, Boqin Qiang, Piu Chan, Yan Shen, Xiru Wu, None, Association between genetic variation of CACNA1H and childhood absence epilepsy Annals of Neurology. ,vol. 54, pp. 239- 243 ,(2003) , 10.1002/ANA.10607

Thomas H. Rhodes, Carlos G. Vanoye, Iori Ohmori, Ikuo Ogiwara, Kazuhiro Yamakawa, Alfred L. George, Sodium channel dysfunction in intractable childhood epilepsy with generalized tonic–clonic seizures The Journal of Physiology. ,vol. 569, pp. 433- 445 ,(2005) , 10.1113/JPHYSIOL.2005.094326

Lieve Claes, Berten Ceulemans, Dominique Audenaert, Katrien Smets, Ann Löfgren, Jurgen Del-Favero, Sirpa Ala-Mello, Lina Basel-Vanagaite, Barbara Plecko, Salmo Raskin, Paul Thiry, Nicole I. Wolf, Christine Van Broeckhoven, Peter De Jonghe, De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy Human Mutation. ,vol. 21, pp. 615- 621 ,(2003) , 10.1002/HUMU.10217

Hilary A. Phillips, Isabelle Favre, Martin Kirkpatrick, Sameer M. Zuberi, David Goudie, Sarah E. Heron, Ingrid E. Scheffer, Grant R. Sutherland, Samuel F. Berkovic, Daniel Bertrand, John C. Mulley, CHRNB2 Is the Second Acetylcholine Receptor Subunit Associated with Autosomal Dominant Nocturnal Frontal Lobe Epilepsy* The American Journal of Human Genetics. ,vol. 68, pp. 225- 231 ,(2001) , 10.1086/316946

Sergey Kalachikov, Oleg Evgrafov, Barbara Ross, Melodie Winawer, Christie Barker-Cummings, Filippo Martinelli Boneschi, Chang Choi, Pavel Morozov, Kamna Das, Elita Teplitskaya, Andrew Yu, Eftihia Cayanis, Graciela Penchaszadeh, Andreas H. Kottmann, Timothy A. Pedley, W. Allen Hauser, Ruth Ottman, T. Conrad Gilliam, Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nature Genetics. ,vol. 30, pp. 335- 341 ,(2002) , 10.1038/NG832

S Petrovski, IE Scheffer, SM Sisodiya, TJ O’Brien, SF Berkovic, Epigen Consortium, None, LACK OF REPLICATION OF ASSOCIATION BETWEEN SCN1A SNP AND FEBRILE SEIZURES Neurology. ,vol. 73, pp. 1928- 1930 ,(2009) , 10.1212/WNL.0B013E3181C3FD6F

Lata Vadlamudi, Marianne J. Kjeldsen, Linda A. Corey, Marit H. Solaas, Mogen L. Friis, John M. Pellock, Karl O. Nakken, Roger L. Milne, Ingrid E. Scheffer, A. Simon Harvey, John L. Hopper, Samuel F. Berkovic, Analyzing the etiology of benign rolandic epilepsy: a multicenter twin collaboration. Epilepsia. ,vol. 47, pp. 550- 555 ,(2006) , 10.1111/J.1528-1167.2006.00466.X

Toshimitsu 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 Yamakawa, None, Mutations in EFHC1 cause juvenile myoclonic epilepsy Nature Genetics. ,vol. 36, pp. 842- 849 ,(2004) , 10.1038/NG1393