franmartinezgr: Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes. #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...

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franmartinezgr franmartinezgr.bsky.social
Pathogenic ultra-rare variants in SLC6A1, SLC6A11, GAD1 and GAD2 are new & recurrent GABAergic loci for GGE syndromes. #RareDisease #Genetics #morbidgene www.medrxiv.org/content/10.1...
Apr 8, 2025 20:19
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franmartinezgr franmartinezgr.bsky.social · Apr 8
The study identifies SLC6A11 and GAD2 as novel epilepsy genes, and expands the functional repertoire of SLC6A1 and GAD1.

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