GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)

Todd, Emily J.; Gurba, Katharine N.; Botzolakis, Emmanuel J.; Stanic, Aleksandar K.; Macdonald, Robert L.

doi:10.1016/j.nbd.2014.05.013

Cited by 29 publications

(25 citation statements)

References 48 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Several other epilepsy-associated c 2 variants, mainly carrying mutations in the extracellular domain, show impaired trafficking and ER retention similar to c 2 -G257R. 20,39,48,49,55 We suggest that in such cases an increase or stabilization of palmitoylation might positively influence the surface expression and postsynaptic clustering of c 2 -containing receptors.…”

Section: Discussionmentioning

confidence: 80%

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Reinthaler

Dejanovic

Lal

et al. 2015

Annals of Neurology

View full text Add to dashboard Cite

show abstract

Section: Discussionmentioning

confidence: 80%

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Reinthaler

Dejanovic

Lal

et al. 2015

Annals of Neurology

View full text Add to dashboard Cite

show abstract

“…The R82 and P83S mutations resulted in about 60-90% reduction of the γ2 subunit on the surface while the N79S mutation resulted in a small reduction (12%) of the γ2 subunit on the surface 34 . The R177G mutation resulted in about a 60% reduction of the surface protein when the mutant subunit was expressed homozygously but about 90% of reduction when expressed heterozygously 35 . This suggests the mutant subunit was at disadvantage for receptor assembly in the presence of the wild-type counterpart.…”

Section: Introductionmentioning

confidence: 99%

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

2016

Self Cite

View full text Add to dashboard Cite

“…Studies of GABA receptor mutations found in human epilepsies exemplify how these systems have been used. 71–74 …”

Section: Functional Modelingmentioning

confidence: 99%

A roadmap for precision medicine in the epilepsies

Berkovic

Scheffer

Petrou

et al. 2015

The Lancet Neurology

165

View full text Add to dashboard Cite

Summary Technological advances have paved the way for accelerated genomic discovery and are bringing precision medicine clearly into view. Epilepsy research in particular is well-suited to serve as a model for the development and deployment of targeted therapeutics in precision medicine because of the rapidly expanding genetic knowledge base in epilepsy, the availability of good in vitro and in vivo model systems to efficiently study the biological consequences of genetic mutations, the ability to turn these models into effective drug screening platforms, and the establishment of collaborative research groups. Moving forward, it is critical that we strengthen these collaborations, particularly through integrated research platforms to provide robust analyses both for accurate personal genome analysis and gene and drug discovery. Similarly, the implementation of clinical trial networks will allow the expansion of patient sample populations with genetically defined epilepsy so that drug discovery can be translated into clinical practice.

show abstract

GABAA receptor biogenesis is impaired by the γ2 subunit febrile seizure-associated mutation, GABRG2(R177G)

Cited by 29 publications

References 48 publications

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Rare variants in γ‐aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes

Molecular Pathogenic Basis forGABRG2Mutations Associated With a Spectrum of Epilepsy Syndromes, From Generalized Absence Epilepsy to Dravet Syndrome

A roadmap for precision medicine in the epilepsies

Contact Info

Product

Resources

About