Cargando…

Gain-of-function and loss-of-function GABRB3 variants lead to distinct clinical phenotypes in patients with developmental and epileptic encephalopathies

Many patients with developmental and epileptic encephalopathies present with variants in genes coding for GABA(A) receptors. These variants are presumed to cause loss-of-function receptors leading to reduced neuronal GABAergic activity. Yet, patients with GABA(A) receptor variants have diverse clini...

Descripción completa

Detalles Bibliográficos
Autores principales:	Absalom, Nathan L., Liao, Vivian W. Y., Johannesen, Katrine M. H., Gardella, Elena, Jacobs, Julia, Lesca, Gaetan, Gokce-Samar, Zeynep, Arzimanoglou, Alexis, Zeidler, Shimriet, Striano, Pasquale, Meyer, Pierre, Benkel-Herrenbrueck, Ira, Mero, Inger-Lise, Rummel, Jutta, Chebib, Mary, Møller, Rikke S., Ahring, Philip K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8983652/ https://www.ncbi.nlm.nih.gov/pubmed/35383156 http://dx.doi.org/10.1038/s41467-022-29280-x

Ejemplares similares

Gain-of-function GABRB3 variants identified in vigabatrin-hypersensitive epileptic encephalopathies
por: Absalom, Nathan L, et al.
Publicado: (2020)

Vinpocetine improved neuropsychiatric and epileptic outcomes in a patient with a GABRA1 loss‐of‐function variant
por: Gjerulfsen, Cathrine E., et al.
Publicado: (2023)

No Gain, Less Pain: GABRB3 Mutations in Epileptic Encephalopathy
por: Gallagher, Martin J.
Publicado: (2022)

GABRB3 mutations: a new and emerging cause of early infantile epileptic encephalopathy
por: Papandreou, Apostolos, et al.
Publicado: (2015)

GABA(A) Receptor Coupling Junction and Pore GABRB3 Mutations are Linked to Early-Onset Epileptic Encephalopathy
por: Hernandez, Ciria C., et al.
Publicado: (2017)

Early onset epileptic encephalopathy with a novel GABRB3 mutation treated effectively with clonazepam: A case report
por: Zhang, Yi, et al.
Publicado: (2017)

Molecular and clinical descriptions of patients with GABA(A) receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotype correlation
por: Maillard, Pierre‐Yves, et al.
Publicado: (2022)

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy
por: Johannesen, Katrine M., et al.
Publicado: (2019)

Ligand Binding at the α4-α4 Agonist-Binding Site of the α4β2 nAChR Triggers Receptor Activation through a Pre-Activated Conformational State
por: Indurthi, Dinesh C., et al.
Publicado: (2016)

Functional analysis of haplotypes and promoter activity at the 5′ region of the human GABRB3 gene and associations with schizophrenia
por: Liu, Yi, et al.
Publicado: (2019)

Zolpidem is a potent stoichiometry-selective modulator of α1β3 GABA(A) receptors: evidence of a novel benzodiazepine site in the α1-α1 interface
por: Che Has, Ahmad Tarmizi, et al.
Publicado: (2016)

Social Cognitive Role of Schizophrenia Candidate Gene GABRB2
por: Tsang, Shui Ying, et al.
Publicado: (2013)

Association Analysis of GABRB3 Promoter Variants with Heroin Dependence
por: Chen, Chia-Hsiang, et al.
Publicado: (2014)

GABRB2 Haplotype Association with Heroin Dependence in Chinese Population
por: Kim, Yung Su, et al.
Publicado: (2015)

Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation
por: Billakota, Santoshi, et al.
Publicado: (2019)

Phenotype Expression Variability in Children with GABRB3 Heterozygous Mutations
por: Khair, Abdulhafeez M., et al.
Publicado: (2021)

GABRA1 and GABRB2 Polymorphisms are Associated with Propofol Susceptibility
por: Zeng, Youjie, et al.
Publicado: (2022)

A Recombination Hotspot in a Schizophrenia-Associated Region of GABRB2
por: Ng, Siu-Kin, et al.
Publicado: (2010)

Natural History Study of STXBP1-Developmental and Epileptic Encephalopathy Into Adulthood
por: Stamberger, Hannah, et al.
Publicado: (2022)

Genetic analysis of GABRB3 as a candidate gene of autism spectrum disorders
por: Chen, Chia-Hsiang, et al.
Publicado: (2014)

Combination Therapy in Fragile X Syndrome; Possibilities and Pitfalls Illustrated by Targeting the mGluR5 and GABA Pathway Simultaneously
por: Zeidler, Shimriet, et al.
Publicado: (2017)

Gain of function due to increased opening probability by two KCNQ5 pore variants causing developmental and epileptic encephalopathy
por: Nappi, Mario, et al.
Publicado: (2022)

Semi-automatic Extraction of Functional Dynamic Networks Describing Patient's Epileptic Seizures
por: Frusque, Gaëtan, et al.
Publicado: (2020)

Epileptic spasms are associated with increased stereo‐electroencephalography derived functional connectivity in tuberous sclerosis complex
por: Neal, Andrew, et al.
Publicado: (2022)

Maternal transmission of a rare GABRB3 signal peptide variant is associated with autism
por: Delahanty, Ryan J., et al.
Publicado: (2009)

MUTATIONS IN THE GABRB1 GENE PROMOTE ALCOHOL CONSUMPTION THROUGH INCREASED TONIC INHIBITION
por: Anstee, Quentin M., et al.
Publicado: (2013)

Genetic variation in GABRB3 is associated with Asperger syndrome and multiple endophenotypes relevant to autism
por: Warrier, Varun, et al.
Publicado: (2013)

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
por: Ishii, Atsushi, et al.
Publicado: (2017)

A novel GABRB3 variant in Dravet syndrome: Case report and literature review
por: Pavone, Piero, et al.
Publicado: (2020)

Functional Characterization of Two Variants at the Intron 6—Exon 7 Boundary of the KCNQ2 Potassium Channel Gene Causing Distinct Epileptic Phenotypes
por: Mosca, Ilaria, et al.
Publicado: (2022)

Variation in the autism candidate gene GABRB3 modulates tactile sensitivity in typically developing children
por: Tavassoli, Teresa, et al.
Publicado: (2012)

Highly Recurrent Copy Number Variations in GABRB2 Associated With Schizophrenia and Premenstrual Dysphoric Disorder
por: Ullah, Ata, et al.
Publicado: (2020)

Ictal epileptic headache: an old story with courses and appeals
por: Parisi, Pasquale, et al.
Publicado: (2012)

Gabrb2-knockout mice displayed schizophrenia-like and comorbid phenotypes with interneuron–astrocyte–microglia dysregulation
por: Yeung, Rigil K., et al.
Publicado: (2018)

Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1(−/−) mice
por: Wang, Jing, et al.
Publicado: (2023)

Duration of epileptic seizure types: A data‐driven approach
por: Meritam Larsen, Pirgit, et al.
Publicado: (2023)

Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations
por: Cross, J. Helen, et al.
Publicado: (2017)

The Z-Drugs Zolpidem, Zaleplon, and Eszopiclone Have Varying Actions on Human GABA(A) Receptors Containing γ1, γ2, and γ3 Subunits
por: Richter, Grant, et al.
Publicado: (2020)

Sex differences in cerebellar synaptic transmission and sex-specific responses to autism-linked Gabrb3 mutations in mice
por: Mercer, Audrey A, et al.
Publicado: (2016)

Gabrb3 endothelial cell-specific knockout mice display abnormal blood flow, hypertension, and behavioral dysfunction
por: Agrud, Anass, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_tdbck49g3m4jm6k6ml5fopbu4q