NontruncatingSCN1AMutations Associated with Severe Myoclonic Epilepsy of Infancy Impair Cell Surface Expression

SCN1A splice variants exhibit divergent sensitivity to commonly used antiepileptic drugs

(2011) Christopher H. Thompson et al.   EPILEPSIA

Nav1.1 dysfunction in genetic epilepsy with febrile seizures-plus or Dravet syndrome

(2011) Linda Volkers et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Pharmacological therapy for cystic fibrosis: From bench to bedside

(2011) Frédéric Becq et al.   Journal of Cystic Fibrosis

Correction of the F508del-CFTR protein processing defect in vitro by the investigational drug VX-809

(2011) F. Van Goor et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

NaV1.1 channels and epilepsy

(2010) William A. Catterall et al.   JOURNAL OF PHYSIOLOGY-LONDON

Sodium channel gene family: epilepsy mutations, gene interactions and modifier effects

(2010) Miriam H. Meisler et al.   JOURNAL OF PHYSIOLOGY-LONDON

Multiplexed transposon-mediated stable gene transfer in human cells

(2010) K. M. Kahlig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

Divergent sodium channel defects in familial hemiplegic migraine

(2008) K. M. Kahlig et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA