Literature DB >> 28133733

Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome.

M Vivero1, M T Cho2, A Begtrup2, I M Wentzensen2, L Walsh3, K Payne3, Y A Zarate4, K Bosanko4, G B Schaefer4, S DeBrosse5, L Pollack6, K Mason6, K Retterer2, S DeWard2, J Juusola2, W K Chung1.   

Abstract

Entities:  

Keywords:  CLIFAHDD syndrome; NALCN; de novo; neurodevelopmental disorder; whole-exome sequencing

Mesh：

Substances：

Year:  2017        PMID： 28133733     DOI： 10.1111/cge.12899

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  4 in total

1.  The NCA-1 and NCA-2 Ion Channels Function Downstream of Gq and Rho To Regulate Locomotion in Caenorhabditis elegans.

Authors:  Irini Topalidou; Pin-An Chen; Kirsten Cooper; Shigeki Watanabe; Erik M Jorgensen; Michael Ailion
Journal:  Genetics       Date:  2017-03-21       Impact factor: 4.562

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

Authors:  Nuria C Bramswig; Aida M Bertoli-Avella; Beate Albrecht; Aida I Al Aqeel; Amal Alhashem; Nouriya Al-Sannaa; Maissa Bah; Katharina Bröhl; Christel Depienne; Nathalie Dorison; Diane Doummar; Nadja Ehmke; Hasnaa M Elbendary; Svetlana Gorokhova; Delphine Héron; Denise Horn; Kiely James; Boris Keren; Alma Kuechler; Samira Ismail; Mahmoud Y Issa; Isabelle Marey; Michèle Mayer; Jennifer McEvoy-Venneri; Andre Megarbane; Cyril Mignot; Sarar Mohamed; Caroline Nava; Nicole Philip; Cecile Ravix; Arndt Rolfs; Abdelrahim Abdrabou Sadek; Lara Segebrecht; Valentina Stanley; Camille Trautman; Stephanie Valence; Laurent Villard; Thomas Wieland; Hartmut Engels; Tim M Strom; Maha S Zaki; Joseph G Gleeson; Hermann-Josef Lüdecke; Peter Bauer; Dagmar Wieczorek
Journal:  Hum Genet       Date:  2018-08-23       Impact factor: 4.132

3.  Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex.

Authors:  Yunlu Kang; Jing-Xiang Wu; Lei Chen
Journal:  Nat Commun       Date:  2020-12-03       Impact factor: 14.919

4.  Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant.

Authors:  Zhenyu Liao; Yali Liu; Yimin Wang; Qin Lu; Yu Peng; Qingsong Liu
Journal:  Front Pediatr       Date:  2022-07-13       Impact factor: 3.569
  4 in total

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