Structural mapping of GABRB3 variants reveals genotype–phenotype correlations

Journal
Genetics in Medicine
ISSN
1098-3600
Date Issued
2022
Author(s)
Katrine M. Johannesen
Sumaiya Iqbal
Milena Guazzi
Nazanin A. Mohammadi
Elise Schaefer
Anne De Saint Martin
Marie Therese Abiwarde
Amy McTague
Roser Pons
Amelie Piton
Manju A. Kurian
Gautam Ambegaonkar
Helen Firth
Alba Sanchis-Juan
Marie Deprez
Katrien Jansen
Liesbeth De Waele
Eva H. Briltra
Nienke E. Verbeek
Marjan van Kempen
Walid Fazeli
Pasquale Striano
Federico Zara
Gerhard Visser
Hilde M.H. Braakman
Martin Haeusler
Miriam Elbracht
Ulvi Vaher
Thomas Smol
Johannes R. Lemke
Konrad Platzer
Joanna Kennedy
Karl Martin Klein
Ping Yee Billie Au
Kimberly Smyth
Julie Kaplan
Morgan Thomas
Malin K. Dewenter
Argirios Dinopoulos
Arthur J. Campbell
Dennis Lal
Damien Lederer
Vivian W.Y. Liao
Philip K. Ahring
Rikke S. Møller
Elena Gardella
Type
Resource Types::text::journal::journal article
Scopus ID
2-s2.0-85121571914
WoS ID
WOS:000797902900012
DOI
URL
URL Institutional Repository
Cite this document
Johannesen, K. M., Iqbal, S., Guazzi, M., Mohammadi, N. A., Pérez-Palma, E., Schaefer, E., De Saint Martin, A., Abiwarde, M. T., McTague, A., Pons, R., Piton, A., Kurian, M. A., Ambegaonkar, G., Firth, H., Sanchis-Juan, A., Deprez, M., Jansen, K., De Waele, L., Briltra, E. H., … Gardella, E. (2022). Structural mapping of GABRB3 variants reveals genotype–phenotype correlations. Genetics in Medicine, 24(3), 681-693. https://doi.org/10.1016/j.gim.2021.11.004
Project(s)
Subjects
de-novo mutations

; 

gaba(a) receptor

; 

febrile seizures

; 

ilae commission

; 

epilepsy

; 

classification

; 

onset

; 

epilepsy

; 

genetic association studies

; 

humans

; 

intellectual disability

; 

mutation

; 

phenotype

; 

receptors, gaba-a

; 

4 aminobutyric acid a receptor beta3

; 

barbituric acid derivative

; 

clobazam

; 

clonazepam

; 

lamotrigine

; 

levetiracetam

; 

steroid

; 

stiripentol

; 

valproic acid

; 

vigabatrin

; 

4 aminobutyric acid a receptor

; 

gabrb3 protein, human

; 

adolescent

; 

adult

; 

article

; 

child

; 

cohort analysis

; 

controlled study

; 

disease severity

; 

electroencephalography

; 

focal epilepsy

; 

gabrb3 gene

; 

generalized epilepsy

; 

genetic counseling

; 

genetic variability

; 

genotype phenotype correlation

; 

human

; 

infant

; 

intellectual impairment

; 

international cooperation

; 

major clinical study

; 

missense mutation

; 

mutational analysis

; 

onset age

; 

peptide mapping

; 

phenotypic variation

; 

protein analysis

; 

protein domain

; 

protein structure

; 

three-dimensional imaging

; 

epilepsy

; 

genetic association study

; 

genetics

; 

intellectual impairment

; 

mutation

; 

phenotype