Literature DB >> 31032849

Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.

Snezana Maljevic1, Boris Keren2, Ye Htet Aung1, Ian C Forster1, Cyril Mignot2,3, Julien Buratti2, Aurélie Lafitte2, Cécile Freihuber4, Lance H Rodan5,6, Ann Bergin7, Laurence Hubert8, Karine Poirier8, Arnold Munnich8, Claude Besmond8, Natalie Hauser9, Rebecca Miller9, Kirsty McWalter10, Rima Nabbout11, Delphine Héron2, Eric Leguern2,3, Christel Depienne3,12, Steven Petrou1, Caroline Nava2,3.   

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Year:  2019        PMID： 31032849     DOI： 10.1093/brain/awz079

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  5 in total

1.  Collaborative Cross mice reveal extreme epilepsy phenotypes and genetic loci for seizure susceptibility.

Authors:  Bin Gu; John R Shorter; Lucy H Williams; Timothy A Bell; Pablo Hock; Katherine A Dalton; Yiyun Pan; Darla R Miller; Ginger D Shaw; Benjamin D Philpot; Fernando Pardo-Manuel de Villena
Journal:  Epilepsia       Date:  2020-08-27       Impact factor: 5.864

2.  Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate.

Authors:  Alba Sanchis-Juan; Marcia A Hasenahuer; James A Baker; Amy McTague; Katy Barwick; Manju A Kurian; Sofia T Duarte; Keren J Carss; Janet Thornton; F Lucy Raymond
Journal:  Mol Genet Genomic Med       Date:  2020-04-29       Impact factor: 2.183

3.  Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.

Authors:  Nathan L Absalom; Vivian W Y Liao; Katrine M H Johannesen; Elena Gardella; Julia Jacobs; Gaetan Lesca; Zeynep Gokce-Samar; Alexis Arzimanoglou; Shimriet Zeidler; Pasquale Striano; Pierre Meyer; Ira Benkel-Herrenbrueck; Inger-Lise Mero; Jutta Rummel; Mary Chebib; Rikke S Møller; Philip K Ahring
Journal:  Nat Commun       Date:  2022-04-05       Impact factor: 14.919

4.  Gabra2 is a genetic modifier of Scn8a encephalopathy in the mouse.

Authors:  Wenxi Yu; Sophie F Hill; James G Xenakis; Fernando Pardo-Manuel de Villena; Jacy L Wagnon; Miriam H Meisler
Journal:  Epilepsia       Date:  2020-11-02       Impact factor: 5.864

5.  Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy.

Authors:  Wenxi Yu; Megan K Mulligan; Robert W Williams; Miriam H Meisler
Journal:  HGG Adv       Date:  2021-10-08
  5 in total

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