Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

doi:10.1111/epi.70045

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Article

Early neurological symptoms and epilepsy outcomes in individuals with the recurrent GABRG2 p.(Ala106Thr) gain-of-function variant: Structural and phenotypic insights.

Epilepsia - 1 Mar 2026

Ortiz Sebastian, Bagliani Chiara, Lin Susan X N, Kusay Ali S, Silvennoinen Katri, Kälviäinen Reetta, Jutila Leena, Saarela Anni, Dahl Rebekka S, Stödberg Tommy, Marini Carla, Cesaroni Elisabetta, Bisulli Francesca, Licchetta Laura, Fallica Elisa, Barco Tommaso Lo, Torta Francesca, Rizzo Valentina, Castro-Villablanca Felipe, Yabumoto Megan, Mirzaa Ghayda, Rossi Alessandra, Laugaard-Jacobsen Christian, Nobili Lino, Liin Sara I, Gardella Elena, Ahring Philip K, Møller Rikke S, Rubboli Guido

Abstract excerpt

OBJECTIVE: Variants in GABRG2, encoding the γ2 subunit of the γ-aminobutyric acid type A receptor, are linked to epilepsy phenotypes of varying severity, with gain-of-function (GoF) variants associated with the more severe phenotypes than loss-of-function variants. Here, we provide a comprehensive analysis of the early clinical features, motor, language, and eating abilities, and structural consequences of the...

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PMID: 41351427
DOI: 10.1111/epi.70045

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GABRG2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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