Article
Genetic variants in components of the NALCN-UNC80-UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies).
Human genetics - 1 Sept 2018
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
Abstract excerpt
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 neuronal expression pattern and its function suggest an important role in neuronal function and disease. So far,...
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