Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)

NALCN is a conserved cation channel, which conducts a permanent sodium leak current and regulates resting membrane potential and neuronal excitability. It is part of a large ion channel complex, the “NALCN channelosome”, consisting of multiple proteins including UNC80 and UNC79. The predominant neur...

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Veröffentlicht in:	Human genetics 2018-09, Vol.137 (9), p.753-768
Hauptverfasser:	Bramswig, Nuria C., Bertoli-Avella, Aida M., Albrecht, Beate, Al Aqeel, Aida I., Alhashem, Amal, Al-Sannaa, Nouriya, Bah, Maissa, Bröhl, Katharina, Depienne, Christel, Dorison, Nathalie, Doummar, Diane, Ehmke, Nadja, Elbendary, Hasnaa M., Gorokhova, Svetlana, Héron, Delphine, Horn, Denise, James, Kiely, Keren, Boris, Kuechler, Alma, Ismail, Samira, Issa, Mahmoud Y., Marey, Isabelle, Mayer, Michèle, McEvoy-Venneri, Jennifer, Megarbane, Andre, Mignot, Cyril, Mohamed, Sarar, Nava, Caroline, Philip, Nicole, Ravix, Cecile, Rolfs, Arndt, Sadek, Abdelrahim Abdrabou, Segebrecht, Lara, Stanley, Valentina, Trautman, Camille, Valence, Stephanie, Villard, Laurent, Wieland, Thomas, Engels, Hartmut, Strom, Tim M., Zaki, Maha S., Gleeson, Joseph G., Lüdecke, Hermann-Josef, Bauer, Peter, Wieczorek, Dagmar
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Biomedical and Life Sciences Biomedicine Carrier Proteins - genetics Channelopathies - genetics Channelopathies - pathology Child Child, Preschool Developmental Disabilities - genetics Developmental Disabilities - pathology Excitability Female Gene Function Genetic aspects Genetic diversity Genetic Markers Genetic Variation Genetics Human Genetics Humans Infant Infant, Newborn Intellectual disabilities Ion Channels Lamotrigine Life Sciences Male Medical schools Membrane potential Membrane Proteins - genetics Metabolic Diseases Molecular Medicine Neurodevelopmental disorders Neurophysiology Original Investigation Phenotype Phenotypes Sodium Sodium Channels - genetics Young Adult
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