Article
Structural mapping of GABRB3 variants reveals genotype-phenotype correlations.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Mar 2022
Johannesen Katrine M, Iqbal Sumaiya, Guazzi Milena, Mohammadi Nazanin A, Pérez-Palma Eduardo, Schaefer Elise, De Saint Martin Anne, Abiwarde Marie Therese, McTague Amy, Pons Roser, Piton Amelie, Kurian Manju A, Ambegaonkar Gautam, Firth Helen, Sanchis-Juan Alba, Deprez Marie, Jansen Katrien, De Waele Liesbeth, Briltra Eva H, Verbeek Nienke E, van Kempen Marjan, Fazeli Walid, Striano Pasquale, Zara Federico, Visser Gerhard, Braakman Hilde M H, Haeusler Martin, Elbracht Miriam, Vaher Ulvi, Smol Thomas, Lemke Johannes R, Platzer Konrad, Kennedy Joanna, Klein Karl Martin, Au Ping Yee Billie, Smyth Kimberly, Kaplan Julie, Thomas Morgan, Dewenter Malin K, Dinopoulos Argirios, Campbell Arthur J, Lal Dennis, Lederer Damien, Liao Vivian W Y, Ahring Philip K, Møller Rikke S, Gardella Elena
Abstract excerpt
PURPOSE: Pathogenic variants in GABRB3 have been associated with a spectrum of phenotypes from severe developmental disorders and epileptic encephalopathies to milder epilepsy syndromes and mild intellectual disability (ID). In this study, we analyzed a large cohort of individuals with GABRB3 variants to deepen the phenotypic understanding and investigate genotype-phenotype correlations. METHODS: Through an...
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