There is an error in the name of the G947R mutation in the 8th sentence of the abstract. The correct sentence is: “Concordant with prior studies, more than 2/3 of all mutations are clustered in exons 17 and 18. Of 143 simplex occurrences, 58 had D801N (40%), 38 had E815K (26%) and 11 had G947R (8%) mutations.“There is an error in the nucleotide in the 17th row in S1 Table. The authors have provided a corrected version of S1 Table below.
Genetic study summary table.
Heterozygous ATP1A3 mutations and protein modifications found in AHC patients in the AHCF registry enrolled from 1997 to 2012.(PDF)Click here for additional data file.
Authors: Louis Viollet; Gustavo Glusman; Kelley J Murphy; Tara M Newcomb; Sandra P Reyna; Matthew Sweney; Benjamin Nelson; Frederick Andermann; Eva Andermann; Gyula Acsadi; Richard L Barbano; Candida Brown; Mary E Brunkow; Harry T Chugani; Sarah R Cheyette; Abigail Collins; Suzanne D DeBrosse; David Galas; Jennifer Friedman; Lee Hood; Chad Huff; Lynn B Jorde; Mary D King; Bernie LaSalle; Richard J Leventer; Aga J Lewelt; Mylynda B Massart; Mario R Mérida; Louis J Ptáček; Jared C Roach; Robert S Rust; Francis Renault; Terry D Sanger; Marcio A Sotero de Menezes; Rachel Tennyson; Peter Uldall; Yue Zhang; Mary Zupanc; Winnie Xin; Kenneth Silver; Kathryn J Swoboda Journal: PLoS One Date: 2015-05-21 Impact factor: 3.240
Authors: Eleni Panagiotakaki; Elisa De Grandis; Michela Stagnaro; Erin L Heinzen; Carmen Fons; Sanjay Sisodiya; Boukje de Vries; Christophe Goubau; Sarah Weckhuysen; David Kemlink; Ingrid Scheffer; Gaëtan Lesca; Muriel Rabilloud; Amna Klich; Alia Ramirez-Camacho; Adriana Ulate-Campos; Jaume Campistol; Melania Giannotta; Marie-Laure Moutard; Diane Doummar; Cecile Hubsch-Bonneaud; Fatima Jaffer; Helen Cross; Fiorella Gurrieri; Danilo Tiziano; Sona Nevsimalova; Sophie Nicole; Brian Neville; Arn M J M van den Maagdenberg; Mohamad Mikati; David B Goldstein; Rosaria Vavassori; Alexis Arzimanoglou Journal: Orphanet J Rare Dis Date: 2015-09-26 Impact factor: 4.123