KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum
ContributorsBonardi, Claudia M; Heyne, Henrike O; Fiannacca, Martina; Fitzgerald, Mark P; Gardella, Elena; Gunning, Boudewijn; Olofsson, Kern; Lesca, Gaétan; Verbeek, Nienke; Stamberger, Hannah; Striano, Pasquale; Zara, Federico; Mancardi, Maria M; Nava, Caroline; Syrbe, Steffen; Buono, Salvatore; Baulac, Stephanie; Coppola, Antonietta; Weckhuysen, Sarah; Schoonjans, An-Sofie; Ceulemans, Berten; Sarret, Catherine; Baumgartner, Tobias; Muhle, Hiltrud; des Portes, Vincent; Toulouse, Joseph; Nougues, Marie-Christine; Rossi, Massimiliano; Demarquay, Geneviève; Ville, Dorothée; Hirsch, Edouard; Maurey, Hélène; Willems, Marjolaine; de Bellescize, Julitta; Altuzarra, Cecilia Desmettre; Villeneuve, Nathalie; Bartolomei, Fabrice; Picard, Fabienne; Hornemann, Frauke; Koolen, David A; Kroes, Hester Y; Reale, Chiara; Fenger, Christina D; Tan, Wen-Hann; Dibbens, Leanne; Bearden, David R; Møller, Rikke S; Rubboli, Guido
Published inBrain, vol. 144, no. 12, p. 3635-3650
Publication date2021-12
First online date2021-06-11
Abstract
Keywords
- KCNT1
- Developmental and epileptic encephalopathies
- Epilepsy of infancy with migrating focal seizures
- Epileptic encephalopathies
- Sleep-related hypermotor epilepsy
Funding
- European Commission - NEUROBIOLOGY OF EPILEPSY GENES [682345]
- National Health and Medical Research Council (NHMRC) - Identifying the Genetic Causes of Epilepsy [1104718]
Citation (ISO format)
BONARDI, Claudia M et al. <i>KCNT1</i>-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum. In: Brain, 2021, vol. 144, n° 12, p. 3635–3650. doi: 10.1093/brain/awab219
Main files (2)
Article (Accepted version)
![accessLevelPublic](assets/images/access-level-free.png)
Article (Published version)
Secondary files (2)
Identifiers
- PID : unige:158799
- DOI : 10.1093/brain/awab219
- PMID : 34114611
ISSN of the journal0006-8950