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A de novo missense variant in GABRA4 alters receptor function in an epileptic and neurodevelopmental phenotype.
Epilepsia 63, e35-e41 (2022)
Publ. Version/Full Text
Research data
DOI
PMC
Variants in γ-aminobutyric acid A (GABAA) receptor genes cause different forms of epilepsy and neurodevelopmental disorders. To date, GABRA4, encoding the α4-subunit, has not been associated with a monogenic condition. However, preclinical evidence points toward seizure susceptibility. Here, we report a de novo missense variant in GABRA4 (c.899C>T, p.Thr300Ile) in an individual with early-onset drug-resistant epilepsy and neurodevelopmental abnormalities. An electrophysiological characterization of the variant, which is located in the pore-forming domain, shows accelerated desensitization and a lack of seizure-protective neurosteroid function. In conclusion, our findings strongly suggest an association between de novo variation in GABRA4 and a neurodevelopmental disorder with epilepsy.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
Drug-resistant Epilepsy ; Early-onset Epilepsy ; Gaba Receptors A ; Neurosteroid ; Tonic Inhibition ; Trio Exome Sequencing; Gaba(a) Receptors; Epilepsies; Genes
ISSN (print) / ISBN
0013-9580
e-ISSN
1528-1167
Journal
Epilepsia
Quellenangaben
Volume: 63,
Issue: 4,
Pages: e35-e41
Publisher
Wiley
Publishing Place
111 River St, Hoboken 07030-5774, Nj Usa
Non-patent literature
Publications
Reviewing status
Peer reviewed
Institute(s)
Institute of Neurogenomics (ING)
Grants
Austrian Science Fund