Nonfunctional NaV1.1 familial hemiplegic migraine mutant transformed into gain of function by partial rescue of folding defects

Divergent effects of the T1174SSCN1Amutation associated with seizures and hemiplegic migraine

(2013) Sandrine Cestèle et al.   EPILEPSIA

Different degrees of loss of function between GEFS+ and SMEI Nav1.1 missense mutants at the same residue induced by rescuable folding defects

(2012) Yoshihiro Sugiura et al.   EPILEPSIA

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

(2012) Christopher H. Thompson et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Autistic-like behaviour in Scn1a +/− mice and rescue by enhanced GABA-mediated neurotransmission

(2012) Sung Han et al.   NATURE

Migraine: a disorder of brain excitatory–inhibitory balance?

(2012) Dania Vecchia et al.   TRENDS IN NEUROSCIENCES

Dravet syndrome: Insights from in vitro experimental models

(2011) Massimo Mantegazza   EPILEPSIA

Na+ Channel ? Subunits: Overachievers of the Ion Channel Family

(2011) William J. Brackenbury et al.   Frontiers in Pharmacology

Epileptogenic ion channel mutations: From bedside to bench and, hopefully, back again

(2010) Massimo Mantegazza et al.   EPILEPSY RESEARCH

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

Molecular genetics of migraine

(2009) Boukje de Vries et al.   HUMAN GENETICS

A rescuable folding defective Nav1.1 (SCN1A) sodium channel mutant causes GEFS+: Common mechanism in Nav1.1 related epilepsies?

(2009) Raffaella Rusconi et al.   HUMAN MUTATION

Protein–protein interactions involving voltage-gated sodium channels: Post-translational regulation, intracellular trafficking and functional expression

(2009) Dongmin Shao et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A BAC transgenic mouse model reveals neuron subtype-specific effects of a Generalized Epilepsy with Febrile Seizures Plus (GEFS+) mutation

(2009) Bin Tang et al.   NEUROBIOLOGY OF DISEASE

Self-Limited Hyperexcitability: Functional Effect of a Familial Hemiplegic Migraine Mutation of the Nav1.1 (SCN1A) Na+ Channel

(2008) S. Cestele et al.   JOURNAL OF NEUROSCIENCE

Navigating the channels and beyond: unravelling the genetics of the epilepsies

(2008) Ingo Helbig et al.   LANCET NEUROLOGY

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