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

Nuria Bramswig Aida Bertoli-Avella Beate Albrecht 1 Aida Al Aqeel Amal Alhashem Nouriya Al-Sannaa Maissa Bah Katharina Bröhl Christel Depienne 2 Nathalie Dorison 3 Diane Doummar 4 Nadja Ehmke Hasnaa Elbendary Svetlana Gorokhova 3 Delphine Heron 5 Denise Horn 6 Kiely James Boris Keren 7 Alma Kuechler 1 Samira Ismail Mahmoud Issa Isabelle Marey 8, 5 Michèle Mayer Jennifer Mcevoy-Venneri André Mégarbané 3 Cyril Mignot 9 Sarar Mohamed Caroline Nava 10 Nicole Philip 3, 11 Cecile Mignon-Ravix 3 Arndt Rolfs 12 Abdelrahim Abdrabou Sadek Lara Segebrecht Valentina Stanley Camille Trautman Stephanie Valence 13, 4 Laurent Villard 3 Thomas Wieland 14 Hartmut Engels 15 Tim Strom 16 Maha Zaki Joseph Gleeson 17 Hermann-Josef Lüdecke 1 Peter Bauer Dagmar Wieczorek 18
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https://hal-amu.archives-ouvertes.fr/hal-01932799
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Submitted on : Friday, November 23, 2018 - 1:07:15 PM
Last modification on : Thursday, December 10, 2020 - 3:44:37 AM

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Nuria Bramswig, Aida Bertoli-Avella, Beate Albrecht, Aida Al Aqeel, Amal Alhashem, et al.. Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies). Human Genetics, Springer Verlag, 2018, 137 (9), pp.753 - 768. ⟨10.1007/s00439-018-1929-5⟩. ⟨hal-01932799⟩

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