Treatment Responsiveness in KCNT1-Related Epilepsy
Treatment Responsiveness in KCNT1-Related Epilepsy
About this item
Full title
Author / Creator
Fitzgerald, Mark P. , Fiannacca, Martina , Smith, Douglas M. , Gertler, Tracy S. , Gunning, Boudewijn , Syrbe, Steffen , Verbeek, Nienke , Stamberger, Hannah , Weckhuysen, Sarah , Ceulemans, Berten , Schoonjans, An-Sofie , Rossi, Massimiliano , Demarquay, Geneviève , Lesca, Gaetan , Olofsson, Kern , Koolen, D. A. , Hornemann, Frauke , Baulac, Stephanie , Rubboli, Guido , Minks, Kelly Q. , Lee, Bohoon , Helbig, Ingo , Dlugos, Dennis , Møller, Rikke S. and Bearden, David
Publisher
Cham: Springer International Publishing
Journal title
Language
English
Formats
Publication information
Publisher
Cham: Springer International Publishing
Subjects
More information
Scope and Contents
Contents
Pathogenic variants in
KCNT1
represent an important cause of treatment-resistant epilepsy, for which an effective therapy has been elusive. Reports about the effectiveness of quinidine, a candidate precision therapy, have been mixed. We sought to evaluate the treatment responsiveness of patients with
KCNT1-
related epilepsy. We performe...
Alternative Titles
Full title
Treatment Responsiveness in KCNT1-Related Epilepsy
Authors, Artists and Contributors
Author / Creator
Fiannacca, Martina
Smith, Douglas M.
Gertler, Tracy S.
Gunning, Boudewijn
Syrbe, Steffen
Verbeek, Nienke
Stamberger, Hannah
Weckhuysen, Sarah
Ceulemans, Berten
Schoonjans, An-Sofie
Rossi, Massimiliano
Demarquay, Geneviève
Lesca, Gaetan
Olofsson, Kern
Koolen, D. A.
Hornemann, Frauke
Baulac, Stephanie
Rubboli, Guido
Minks, Kelly Q.
Lee, Bohoon
Helbig, Ingo
Dlugos, Dennis
Møller, Rikke S.
Bearden, David
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6694367
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6694367
Other Identifiers
ISSN
1933-7213,1878-7479
E-ISSN
1878-7479
DOI
10.1007/s13311-019-00739-y