No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy

Affiliations

Comment

Martin J Gallagher. Epilepsy Curr. 2022.

. 2022 Nov 1;23(1):44-46.

doi: 10.1177/15357597221130199. eCollection 2023 Jan-Feb.

No abstract available

Conflict of interest statement

The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies.
Absalom NL, Liao VWY, Johannesen KMH, Gardella E, Jacobs J, Lesca G, Gokce-Samar Z, Arzimanoglou A, Zeidler S, Striano P, Meyer P, Benkel-Herrenbrueck I, Mero IL, Rummel J, Chebib M, Møller RS, Ahring PK. Absalom NL, et al. Nat Commun. 2022 Apr 5;13(1):1822. doi: 10.1038/s41467-022-29280-x. Nat Commun. 2022. PMID: 35383156 Free PMC article.

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