Literature DB >> 27870904

Correction: Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Ciria C Hernandez, Tara L Klassen, Laurel G Jackson, Katharine Gurba, Ningning Hu, Jeffrey L Noebels, Robert L Macdonald.   

Abstract

[This corrects the article DOI: 10.1371/journal.pone.0162883.].

Entities:  

Year:  2016        PMID: 27870904      PMCID: PMC5117773          DOI: 10.1371/journal.pone.0167264

Source DB:  PubMed          Journal:  PLoS One        ISSN: 1932-6203            Impact factor:   3.240


In Table 2, three variants corresponding to the GABRP gene were incorrectly described. The R200H variant should be R200H/C, the S293P variant should be R293C, and the R389N variant should be D389N. Please see the corrected Table 2 here.
Table 2

Unique GABR variants from GECs reported in the 237 ion channel genes project1.

1GECs = genetic epilepsy cases [20]. *GABR variants characterized in this study.

GABR geneVariantOccurrence of variants among GECs
GABRA1T20I*1
GABRA4H372P*1
GABRA5W280R*3
GABRA5P453L*1
GABRB2R293W*1
GABRG3A303T*1
GABRA4A19T*1
GABRA5V204I*1
GABRA5S402A*1
GABRA6Q237R*1
GABRB1H421Q*1
GABRB2R354C*2
GABRG1S16R*1
GABRG1S414N*1
GABRER472H1
GABRES484L1
GABRPR200H/C2
GABRPS292P1
GABRPR293C1
GABRPD389N1
GABRR2R287H1
GABRR2V294I2
GABRER452G1
GABRPV349A5

Unique GABR variants from GECs reported in the 237 ion channel genes project1.

1GECs = genetic epilepsy cases [20]. *GABR variants characterized in this study.
  1 in total

1.  Deleterious Rare Variants Reveal Risk for Loss of GABAA Receptor Function in Patients with Genetic Epilepsy and in the General Population.

Authors:  Ciria C Hernandez; Tara L Klassen; Laurel G Jackson; Katharine Gurba; Ningning Hu; Jeffrey L Noebels; Robert L Macdonald
Journal:  PLoS One       Date:  2016-09-13       Impact factor: 3.240

  1 in total
  1 in total

1.  Rare variants in the GABAA receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Authors:  Fenja Markus; Chloé Angelini; Aurelien Trimouille; Gabrielle Rudolf; Gaetan Lesca; Cyril Goizet; Eulalie Lasseaux; Benoit Arveiler; Marjon van Slegtenhorst; Alice S Brooks; Rami Abou Jamra; Georg-Christoph Korenke; John Neidhardt; Marta Owczarek-Lipska
Journal:  Mol Genet Genomic Med       Date:  2020-06-25       Impact factor: 2.183

  1 in total

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