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Title:

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

Document type:
Journal Article; Research Support, Non-U.S. Gov't
Author(s):
Vogel, Florian D; Krenn, Martin; Westphal, Dominik S; Graf, Elisabeth; Wagner, Matias; Leiz, Steffen; Koniuszewski, Filip; Augé-Stock, Maximilian; Kramer, Georg; Scholze, Petra; Ernst, Margot
Abstract:
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 characterizatio...     »
Journal title abbreviation:
Epilepsia
Year:
2022
Journal volume:
63
Journal issue:
4
Pages contribution:
e35-e41
Fulltext / DOI:
doi:10.1111/epi.17188
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/35152403
Print-ISSN:
0013-9580
TUM Institution:
Institut für Humangenetik
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