Hereditary Hyperekplexia

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1		Camila Xu	+ 646 word(s)	646	2020-12-15 07:26:37

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Xu, C. Hereditary Hyperekplexia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4083 (accessed on 22 September 2026).

Xu C. Hereditary Hyperekplexia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4083. Accessed September 22, 2026.

Xu, Camila. "Hereditary Hyperekplexia" Encyclopedia, https://encyclopedia.pub/entry/4083 (accessed September 22, 2026).

Xu, C. (2020, December 23). Hereditary Hyperekplexia. In Encyclopedia. https://encyclopedia.pub/entry/4083

Xu, Camila. "Hereditary Hyperekplexia." Encyclopedia. Web. 23 December, 2020.

Hereditary Hyperekplexia

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/hereditary-hyperekplexia

Hereditary hyperekplexia is a condition in which affected infants have increased muscle tone (hypertonia) and an exaggerated startle reaction to unexpected stimuli, especially loud noises.

genetic conditions

References

Bakker MJ, van Dijk JG, van den Maagdenberg AM, Tijssen MA. Startle syndromes.Lancet Neurol. 2006 Jun;5(6):513-24. Review.
Bode A, Wood SE, Mullins JG, Keramidas A, Cushion TD, Thomas RH, Pickrell WO, Drew CJ, Masri A, Jones EA, Vassallo G, Born AP, Alehan F, Aharoni S, Bannasch G,Bartsch M, Kara B, Krause A, Karam EG, Matta S, Jain V, Mandel H, Freilinger M,Graham GE, Hobson E, Chatfield S, Vincent-Delorme C, Rahme JE, Afawi Z, Berkovic SF, Howell OW, Vanbellinghen JF, Rees MI, Chung SK, Lynch JW. New hyperekplexiamutations provide insight into glycine receptor assembly, trafficking, andactivation mechanisms. J Biol Chem. 2013 Nov 22;288(47):33745-59. doi:10.1074/jbc.M113.509240.
Harvey RJ, Topf M, Harvey K, Rees MI. The genetics of hyperekplexia: more thanstartle! Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005.
Masri A, Chung SK, Rees MI. Hyperekplexia: Report on phenotype and genotype of16 Jordanian patients. Brain Dev. 2017 Apr;39(4):306-311. doi:10.1016/j.braindev.2016.10.010.
Rees MI, Harvey K, Pearce BR, Chung SK, Duguid IC, Thomas P, Beatty S, Graham GE, Armstrong L, Shiang R, Abbott KJ, Zuberi SM, Stephenson JB, Owen MJ, Tijssen MA, van den Maagdenberg AM, Smart TG, Supplisson S, Harvey RJ. Mutations in thegene encoding GlyT2 (SLC6A5) define a presynaptic component of human startledisease. Nat Genet. 2006 Jul;38(7):801-6.
Villmann C, Oertel J, Melzer N, Becker CM. Recessive hyperekplexia mutationsof the glycine receptor alpha1 subunit affect cell surface integration andstability. J Neurochem. 2009 Nov;111(3):837-47. doi:10.1111/j.1471-4159.2009.06372.x.
Zhang Y, Bode A, Nguyen B, Keramidas A, Lynch JW. Investigating the Mechanism by Which Gain-of-function Mutations to the α1 Glycine Receptor CauseHyperekplexia. J Biol Chem. 2016 Jul 15;291(29):15332-41. doi:10.1074/jbc.M116.728592.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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