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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Bibliografske podrobnosti
izdano v:Hum Mol Genet
Main Authors: 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
Jezik:Inglês
Izdano: Oxford University Press 2009
Teme:
Articles
Online dostop: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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