geoscience.net logo
+ Resolve Article
+ Follow Us
Follow on FacebookFollow on Facebook
Follow on TwitterFollow on Twitter

+ Translate
+ Subscribe to Site Feed
GeoScience Most Shared ContentMost Shared Content

The genetics of hyperekplexia more than startle


, : The genetics of hyperekplexia more than startle. Trends In Genetics: 9, 439-447

Hyperekplexia is characterised by neonatal hypertonia and an exaggerated startle reflex in response to acoustic or tactile stimuli. Genetic analysis of this disorder has revealed mutations in genes for several postsynaptic proteins involved in glycinergic neurotransmission, including the glycine receptor (GlyR) alpha 1 and beta subunits, gephyrin and collybistin.

US$19.90

DOI: 10.1016/j.tig.2008.06.005


Other references

Asgis, A.J., 1970: Editorial. Active physician-dentist cooperation needed. New York Journal of Dentistry 40(8): 275-276

Brown C.D.A.; Turnberg L.A., 1987: Mechanisms of anion transport across the apical membrane of duodenal enterocytes of the rat. Journal of Physiology (Cambridge) 382: 48P

Choi K H.; Shin S I., 1982: Rejection of tumor growth by nude mice selectivity of the thymus independent mechanism. Experimental Cell Biology 50(6): 327-328

Bayssade-Defour, C.; Marteau, M., 1973: Chetotaxie des cercaires de deux trematodes Echinostomatinae: Echinoparyphium aconiatum Dietz, 1909, et Moliniella anceps (Molin, 1859). Bulletin Mus Natn Hist Nat Paris (Zool), 98: 691-703

Weiss, B.; Grossman, L., 1987: Phosphodiesterases involved in DNA repair. Advances in Enzymology and Related Areas of Molecular Biology 60: 1-34

Favero N.; Costa P.; Massimino M.L., 1991: In vitro uptake of cadmium by basidiomycetes pleurotus ostreatus. The mycelium of Basidiomycetes Pleurotus ostreatus was grown in liquid cultures of malt broth enriched with increasing amounts of cadmium also in the presence of copper and glutathione. Cadmium, up to 150 .mu.g/ml gradually inhibited mycelial deve...

Klein, M.; Mogles, N.; van Wissen, A., 2015: Intelligent mobile support for therapy adherence and behavior change. Mobile applications have proven to be promising tools for supporting people in adhering to their health goals. Although coaching and reminder apps abound, few of them are based on established theories of behavior change. In the present work, a beh...

Hawrylak-Nowak,B., 2008: Enhanced selenium content in sweet basil by foliar fertilization. Selenium has been recognized as an essential trace element for animals and humans. Although it has not been confirmed to be an essential micronutrient in plant tissues, plants play a unique role in recycling and delivering selenium from the soil t...

Kurashev V.N., 1990: The parasitic parasecodes simulans mercet 1924 hymenoptera eulophidae from turkmenistan ussr. Izvestiya Akademii Nauk Turkmenskoi SSR Seriya Biologicheskikh Nauk (6): 60-61

Patto, C.E.G.; Pie, M.R., 2006: Escape behaviour in the Neotropical frog Hylodes asper (Anura: Leptodactylidae). Predation is an important selective pressure in natural populations, leading to the bewildering diversity of antipredation strategies found in nature. However, studies focusing on real-time assessment and management of risks by prey are underrepre...