Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Camila Xu + 663 word(s) 663 2020-12-15 07:28:32

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Juvenile Myoclonic Epilepsy. Encyclopedia. Available online: https://encyclopedia.pub/entry/4181 (accessed on 22 September 2026).
Xu C. Juvenile Myoclonic Epilepsy. Encyclopedia. Available at: https://encyclopedia.pub/entry/4181. Accessed September 22, 2026.
Xu, Camila. "Juvenile Myoclonic Epilepsy" Encyclopedia, https://encyclopedia.pub/entry/4181 (accessed September 22, 2026).
Xu, C. (2020, December 23). Juvenile Myoclonic Epilepsy. In Encyclopedia. https://encyclopedia.pub/entry/4181
Xu, Camila. "Juvenile Myoclonic Epilepsy." Encyclopedia. Web. 23 December, 2020.
Juvenile Myoclonic Epilepsy
Edit

Juvenile myoclonic epilepsy is a condition characterized by recurrent seizures (epilepsy).

genetic conditions

References

  1. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM,Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA. Mutation of GABRA1 in anautosomal dominant form of juvenile myoclonic epilepsy. Nat Genet. 2002Jun;31(2):184-9.
  2. Ding L, Feng HJ, Macdonald RL, Botzolakis EJ, Hu N, Gallagher MJ. GABA(A)receptor alpha1 subunit mutation A322D associated with autosomal dominantjuvenile myoclonic epilepsy reduces the expression and alters the composition of wild type GABA(A) receptors. J Biol Chem. 2010 Aug 20;285(34):26390-405. doi:10.1074/jbc.M110.142299.
  3. Gallagher MJ, Ding L, Maheshwari A, Macdonald RL. The GABAA receptor alpha1subunit epilepsy mutation A322D inhibits transmembrane helix formation and causesproteasomal degradation. Proc Natl Acad Sci U S A. 2007 Aug 7;104(32):12999-3004.
  4. Krampfl K, Maljevic S, Cossette P, Ziegler E, Rouleau GA, Lerche H, Bufler J. Molecular analysis of the A322D mutation in the GABA receptor alpha-subunitcausing juvenile myoclonic epilepsy. Eur J Neurosci. 2005 Jul;22(1):10-20.
  5. Suzuki T, Delgado-Escueta AV, Aguan K, Alonso ME, Shi J, Hara Y, Nishida M,Numata T, Medina MT, Takeuchi T, Morita R, Bai D, Ganesh S, Sugimoto Y, InazawaJ, Bailey JN, Ochoa A, Jara-Prado A, Rasmussen A, Ramos-Peek J, Cordova S,Rubio-Donnadieu F, Inoue Y, Osawa M, Kaneko S, Oguni H, Mori Y, Yamakawa K.Mutations in EFHC1 cause juvenile myoclonic epilepsy. Nat Genet. 2004Aug;36(8):842-9.
More
Upload a video for this entry
Information
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 749
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Notice
You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
OK
Confirm
Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
Yes
No
${ textCharacter }/${ maxCharacter }
Submit
Cancel
There is no comment~
${ textCharacter }/${ maxCharacter }
Submit
Cancel
${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
Submit
Cancel
Confirm
Are you sure to Delete?
Yes No
Academic Video Service