Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

doi:10.1016/j.ebiom.2024.105236

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Article

Distinct neurodevelopmental and epileptic phenotypes associated with gain- and loss-of-function GABRB2 variants.

EBioMedicine - 1 Aug 2024

Mohammadi Nazanin Azarinejad, Ahring Philip Kiær, Yu Liao Vivian Wan, Chua Han Chow, Ortiz de la Rosa Sebastián, Johannesen Katrine Marie, Michaeli-Yossef Yael, Vincent-Devulder Aline, Meridda Catherine, Bruel Ange-Line, Rossi Alessandra, Patel Chirag, Klepper Joerg, Bonanni Paolo, Minghetti Sara, Trivisano Marina, Specchio Nicola, Amor David, Auvin Stéphane, Baer Sarah, Meyer Pierre, Milh Mathieu, Salpietro Vincenzo, Maroofian Reza, Lemke Johannes R, Weckhuysen Sarah, Christophersen Palle, Rubboli Guido, Chebib Mary, Jensen Anders A, Absalom Nathan L, Møller Rikke Steensbjerre

Abstract excerpt

BACKGROUND: Variants in GABRB2, encoding the β2 subunit of the γ-aminobutyric acid type A (GABAA) receptor, can result in a diverse range of conditions, ranging from febrile seizures to severe developmental and epileptic encephalopathies. However, the mechanisms underlying the risk of developing milder vs more severe forms of disorder remain unclear. In this study, we conducted a comprehensive genotype-phenotype...

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Identifiers

PMID: 38996765
DOI: 10.1016/j.ebiom.2024.105236
PMCID: PMC11296288

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