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
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
Semantic Similarity Analysis Reveals Robust Gene-Disease Relationships in Developmental and Epileptic Encephalopathies.
Galer PD et al.
American Journal of Human Genetics, 2020
32853554 (PubMed )
Supplement: mmc2.xlsx › S6
Widening phenotypic spectrum of GABBR2 mutation.
Samanta D et al.
Acta Neurologica Belgica, 2019
A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.
Vuillaume ML et al.
Annals of Neurology, 2018
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF et al.
American Journal of Human Genetics, 2017
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y et al.
Annals of Neurology, 2017
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