Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants Article Swipe

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Alessandra Rossi , Susan X. N. Lin , Nathan L. Absalom , Sebastian Ortiz-De la Rosa , Vivian W. Y. Liao , Nazanin A. Mohammadi , Sindhu Viswanathan , Tommy Stödberg , Alberto Danieli , Paolo Bonanni , Alec Aeby , Alessandro Orsini , Alice Bonuccelli , Andrea Rüegger , Beatriz G. Giráldez , Bertrand Isidor , Burkhard Stüve , Carla Marini , Elisabetta Cesaroni , Christina Fenger , Christophe Philippe , Colombine Meunier , Damien Lederer , Stéphanie Moortgat , Egidio Spinelli , Elisa Fallica , Fiona Zeiner , Matthias Bauman , Laura Licchetta , Francesca Bisulli , Francesca Felicia Operto , Ira Benkel-Herrenbrueck , Kathleen M. Gorman , Katrine M. Johannesen , Konrad Platzer , Franziska Schnabel , Lieven Lagae , M Laufs , Riina Žordania , Stephen Malone , Tullio Messana , Wendy Werckx , Charlotte Jonsson , Zaid Afawi , Thomas Foiadelli , Yosra Halleb , Radka Stoeva , Mélanie Jennesson-Lyver , Gaëtan Lesca , Renzo Guerrini , Samuel F. Berkovic , Ingrid E. Scheffer , Mary Chebib , Elena Gardella , Rikke S. Møller , Guido Rubboli , Philip K. Ahring ·

YOU? · · 2025 · Open Access · · DOI: https://doi.org/10.1212/wnl.0000000000213644

Our findings indicate that the severity of disease associated with pathogenic GABRG2 variants depends on the functional consequences of the variants. Null variants are associated with a mild phenotype and missense LoF variants with an intermediate phenotype while GoF variants can lead to severe phenotypes.

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Phenotype Gain of function Loss function Genetics Function (biology) Spectrum (functional analysis) Biology Physics Gene Quantum mechanics

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Type: article
Language: en
Landing Page: https://doi.org/10.1212/wnl.0000000000213644
PDF: https://www.neurology.org/doi/pdf/10.1212/WNL.0000000000213644
OA Status: hybrid
Cited By: 2
References: 46
Related Works: 10
OpenAlex ID: https://openalex.org/W4411676287

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DOI: https://doi.org/10.1212/wnl.0000000000213644

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Title: Phenotypic Spectrum in Individuals With Pathogenic GABRG2 Loss- and Gain-of-Function Variants

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Type: article

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Language: en

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Publication year: 2025

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Publication date: 2025-06-26

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Authors: Alessandra Rossi, Susan X. N. Lin, Nathan L. Absalom, Sebastian Ortiz-De la Rosa, Vivian W. Y. Liao, Nazanin A. Mohammadi, Sindhu Viswanathan, Tommy Stödberg, Alberto Danieli, Paolo Bonanni, Alec Aeby, Alessandro Orsini, Alice Bonuccelli, Andrea Rüegger, Beatriz G. Giráldez, Bertrand Isidor, Burkhard Stüve, Carla Marini, Elisabetta Cesaroni, Christina Fenger, Christophe Philippe, Colombine Meunier, Damien Lederer, Stéphanie Moortgat, Egidio Spinelli, Elisa Fallica, Fiona Zeiner, Matthias Bauman, Laura Licchetta, Francesca Bisulli, Francesca Felicia Operto, Ira Benkel-Herrenbrueck, Kathleen M. Gorman, Katrine M. Johannesen, Konrad Platzer, Franziska Schnabel, Lieven Lagae, M Laufs, Riina Žordania, Stephen Malone, Tullio Messana, Wendy Werckx, Charlotte Jonsson, Zaid Afawi, Thomas Foiadelli, Yosra Halleb, Radka Stoeva, Mélanie Jennesson-Lyver, Gaëtan Lesca, Renzo Guerrini, Samuel F. Berkovic, Ingrid E. Scheffer, Mary Chebib, Elena Gardella, Rikke S. Møller, Guido Rubboli, Philip K. Ahring

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Landing page: https://doi.org/10.1212/wnl.0000000000213644

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PDF URL: https://www.neurology.org/doi/pdf/10.1212/WNL.0000000000213644

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Concepts: Phenotype, Gain of function, Loss function, Genetics, Function (biology), Spectrum (functional analysis), Biology, Physics, Gene, Quantum mechanics

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Cited by: 2

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referenced_works_count	46
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sustainable_development_goals[0].id	https://metadata.un.org/sdg/2
sustainable_development_goals[0].score	0.5400000214576721
sustainable_development_goals[0].display_name	Zero hunger
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