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Yang, C. CLN8 Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5116 (accessed on 22 September 2026).
Yang C. CLN8 Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5116. Accessed September 22, 2026.
Yang, Catherine. "CLN8 Disease" Encyclopedia, https://encyclopedia.pub/entry/5116 (accessed September 22, 2026).
Yang, C. (2020, December 24). CLN8 Disease. In Encyclopedia. https://encyclopedia.pub/entry/5116
Yang, Catherine. "CLN8 Disease." Encyclopedia. Web. 24 December, 2020.
CLN8 Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/cln8-disease

CLN8 disease is an inherited disorder that varies in severity and primarily affects the nervous system. The condition is generally separated into less-severe and more-severe forms, based on the types of signs and symptoms that develop and life expectancy.

genetic conditions

References

  1. Kollmann K, Uusi-Rauva K, Scifo E, Tyynelä J, Jalanko A, Braulke T. Cellbiology and function of neuronal ceroid lipofuscinosis-related proteins. Biochim Biophys Acta. 2013 Nov;1832(11):1866-81. doi: 10.1016/j.bbadis.2013.01.019.
  2. Lauronen L, Santavuori P, Hirvasniemi A, Kirveskari E, Huttunen J, Autti T.Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies. EurJ Paediatr Neurol. 2001;5 Suppl A:167-73.
  3. Passantino R, Cascio C, Deidda I, Galizzi G, Russo D, Spedale G, Guarneri P.Identifying protein partners of CLN8, an ER-resident protein involved in neuronalceroid lipofuscinosis. Biochim Biophys Acta. 2013 Mar;1833(3):529-40. doi:10.1016/j.bbamcr.2012.10.030.
  4. Reinhardt K, Grapp M, Schlachter K, Brück W, Gärtner J, Steinfeld R. NovelCLN8 mutations confirm the clinical and ethnic diversity of late infantileneuronal ceroid lipofuscinosis. Clin Genet. 2010 Jan;77(1):79-85. doi:10.1111/j.1399-0004.2009.01285.x.
  5. Williams RE, Mole SE. New nomenclature and classification scheme for theneuronal ceroid lipofuscinoses. Neurology. 2012 Jul 10;79(2):183-91. doi:10.1212/WNL.0b013e31825f0547.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang
View Times: 855
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 05 Apr 2021
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