Associated Papers
Normalization of network activity in an epilepsy model with a constitutively active GABBR2 variant.
Stawarski M et al.
Brain : a Journal of Neurology, 2025
Presynaptic hyperexcitability reversed by positive allosteric modulation of a GABABR epilepsy variant.
Minere M et al.
Brain : a Journal of Neurology, 2025
Genetic implication of GABAB receptors in the etiology of neurological and psychiatric disorders.
Gassmann M et al.
Frontiers in Pharmacology, 2025
Paroxysmal limb dystonias associated with GABBR2 pathogenic variant: A case-based literature review.
D'Onofrio G et al.
Brain & Development, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
De novo mutations in folate-related genes associated with common developmental disorders.
Luo T et al.
Computational and Structural Biotechnology Journal, 2021
33777337 (PubMed )
Supplement: mmc6.xlsx › Sheet1
Widening phenotypic spectrum of GABBR2 mutation.
Samanta D et al.
Acta Neurologica Belgica, 2019
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
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