The de novo <i>GABRA4</i> p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits-Reference-Cited by-同舟云学术

The de novo GABRA4 p.Thr300Ile variant found in a patient with early‐onset intractable epilepsy and neurodevelopmental abnormalities displays gain‐of‐function traits

Published:2022-07-20 Issue:9 Volume:63 Page:2439-2441
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Ahring Philip K.¹^ORCID,Liao Vivian W. Y.¹^ORCID,Lin Susan¹^ORCID,Absalom Nathan L.²^ORCID,Chebib Mary¹^ORCID,Møller Rikke S.³⁴^ORCID

Affiliation:

1. Brain and Mind Centre, Sydney Pharmacy School, Faculty of Medicine and Health The University of Sydney Sydney New South Wales Australia

2. School of Science University of Western Sydney Sydney New South Wales Australia

3. Department of Epilepsy Genetics and Personalized Treatment, Member of the ERN EpiCARE The Danish Epilepsy Centre Dianalund Denmark

4. Department of Regional Health Research University of Southern Denmark Odense Denmark

Funder

Lundbeckfonden

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/epi.17358

Reference13 articles.

1. A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype

2. GABAA receptors: immunocytochemical distribution of 13 subunits in the adult rat brain

3. GABAA receptor 4 subunits mediate extrasynaptic inhibition in thalamus and dentate gyrus and the action of gaboxadol

4. A pharmacological assessment of agonists and modulators at α4β2γ2 and α4β2δ GABA A receptors: The challenge in comparing apples with oranges

5. High and low GABA sensitivity α4β2δ GABAA receptors are expressed in Xenopus laevis oocytes with divergent stoichiometries

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants;eBioMedicine;2024-08

2. De novo variants in GABRA4 are associated with a neurological phenotype including developmental delay, behavioral abnormalities and epilepsy;European Journal of Human Genetics;2024-04-02

3. Milestone review: GABA, from chemistry, conformations, ionotropic receptors, modulators, epilepsy, flavonoids, and stress to neuro‐nutraceuticals;Journal of Neurochemistry;2024-02-21

4. GABRA1‐Related Disorders: From Genetic to Functional Pathways;Annals of Neurology;2023-10-20

5. Correlations of receptor desensitization of gain-of-function GABRB3 variants with clinical severity;Brain;2023-08-30