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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Oct 10, 2024. (Total: 232398Documents)
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Records 1 - 3 (of 3 Records)

Query Trace: Seizures and EFHC1[original query]
Mutations in EFHC1 cause juvenile myoclonic epilepsy.
Nature genetics 2004 Aug 36 (8): 842-9.
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 Kazuhi
Pathogenic EFHC1 mutations are tolerated in healthy individuals dependent on reported ancestry.
Epilepsia 2015 Feb 56 (2): 188-94.
Subaran Ryan L, Conte Juliette M, Stewart William C L, Greenberg David
Revisiting the clinical impact of variants in EFHC1 in patients with different phenotypes of genetic generalized epilepsy.
Epilepsy & behavior : E&B 2020 11 112 107469.
Gonsales Marina C, Ribeiro Patrícia A O, Betting Luiz E, Alvim Marina K M, Guerreiro Carlos M, Yasuda Clarissa L, Gitaí Daniel L G, Cendes Fernando, Lopes-Cendes Isc
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