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Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.
Rossi, Alessandra Lin, Susan X N Absalom, Nathan L Ortiz-De la Rosa, Sebastian Liao, Vivian W Y Mohammadi, Nazanin A Viswanathan, Sindhu Stödberg, Tommy Danieli, Alberto Bonanni, Paolo
Rossi, Alessandra
Lin, Susan X N
Absalom, Nathan L
Ortiz-De la Rosa, Sebastian
Liao, Vivian W Y
Mohammadi, Nazanin A
Viswanathan, Sindhu
Stödberg, Tommy
Danieli, Alberto
Bonanni, Paolo
Author
Rossi, Alessandra
Lin, Susan X N
Absalom, Nathan L
Ortiz-De la Rosa, Sebastian
Liao, Vivian W Y
Mohammadi, Nazanin A
Viswanathan, Sindhu
Stödberg, Tommy
Danieli, Alberto
Bonanni, Paolo
Aeby, Alec
Orsini, Alessandro
Bonuccelli, Alice
Rüegger, Andrea
Giraldez, Beatriz G
Isidor, Bertrand
Stüve, Burkhard
Marini, Carla
Cesaroni, Elisabetta
Fenger, Christina D
Philippe, Christophe
Meunier, Colombine
Lederer, Damien
Moortgat, Stéphanie
Spinelli, Egidio
Fallica, Elisa
Zeiner, Fiona
Bauman, Matthias
Licchetta, Laura
Bisulli, Francesca
Operto, Francesca F
Benkel-Herrenbrueck, Ira
Gorman, Kathleen M
Johannesen, Katrine M
Platzer, Konrad
Schnabel, Franziska
Lagae, Lieven
Laufs, Mirjam
Zordania, Riina
Malone, Stephen
Messana, Tullio
Werckx, Wendy
Jonsson, Charlotta
Afawi, Zaid
Foiadelli, Thomas
Halleb, Yosra
Stoeva, Radka
Jennesson-Lyver, Mélanie
Lesca, Gaetan
Guerrini, Renzo
Berkovic, Samuel F
Scheffer, Ingrid E
Chebib, Mary
Gardella, Elena
Møller, Rikke S
Rubboli, Guido
Ahring, Philip K
Lin, Susan X N
Absalom, Nathan L
Ortiz-De la Rosa, Sebastian
Liao, Vivian W Y
Mohammadi, Nazanin A
Viswanathan, Sindhu
Stödberg, Tommy
Danieli, Alberto
Bonanni, Paolo
Aeby, Alec
Orsini, Alessandro
Bonuccelli, Alice
Rüegger, Andrea
Giraldez, Beatriz G
Isidor, Bertrand
Stüve, Burkhard
Marini, Carla
Cesaroni, Elisabetta
Fenger, Christina D
Philippe, Christophe
Meunier, Colombine
Lederer, Damien
Moortgat, Stéphanie
Spinelli, Egidio
Fallica, Elisa
Zeiner, Fiona
Bauman, Matthias
Licchetta, Laura
Bisulli, Francesca
Operto, Francesca F
Benkel-Herrenbrueck, Ira
Gorman, Kathleen M
Johannesen, Katrine M
Platzer, Konrad
Schnabel, Franziska
Lagae, Lieven
Laufs, Mirjam
Zordania, Riina
Malone, Stephen
Messana, Tullio
Werckx, Wendy
Jonsson, Charlotta
Afawi, Zaid
Foiadelli, Thomas
Halleb, Yosra
Stoeva, Radka
Jennesson-Lyver, Mélanie
Lesca, Gaetan
Guerrini, Renzo
Berkovic, Samuel F
Scheffer, Ingrid E
Chebib, Mary
Gardella, Elena
Møller, Rikke S
Rubboli, Guido
Ahring, Philip K
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Other Contributors
Departments
Date
2025-06-26
Date Submitted
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Planned Date
Start Date
Collaborators
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Publisher
Abstract
Language
en
Citation
ISSN
eISSN
1526-632X
ISBN
DOI
10.1212/WNL.0000000000213644
PMID
40570274
PMCID
PMC12202131