Efhc1 deficiency causes spontaneous myoclonus and increased seizure susceptibility

Mutations in EFHC1 gene have been previously reported in patients with epilepsies, including those with juvenile myoclonic epilepsy. Myoclonin1, also known as mRib72-1, is encoded by the mouse Efhc1 gene. Myoclonin1 is dominantly expressed in embryonic choroid plexus, post-natal ependymal cilia, tra...

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Publicat a:Hum Mol Genet
Autors principals: Suzuki, Toshimitsu, Miyamoto, Hiroyuki, Nakahari, Takashi, Inoue, Ikuyo, Suemoto, Takahiro, Jiang, Bin, Hirota, Yuki, Itohara, Shigeyoshi, Saido, Takaomi C., Tsumoto, Tadaharu, Sawamoto, Kazunobu, Hensch, Takao K., Delgado-Escueta, Antonio V., Yamakawa, Kazuhiro
Format: Artigo
Idioma:Inglês
Publicat: Oxford University Press 2009
Matèries:
Articles
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4817086/
https://ncbi.nlm.nih.gov/pubmed/19147686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddp006
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