SCN1A‐related phenotypes: Epilepsy and beyond

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

(2019) Rima Nabbout et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

Exome sequencing findings in 27 patients with myoclonic‐atonic epilepsy: is there a major genetic factor?

(2019) Laura Routier et al.   CLINICAL GENETICS

SCN1A variants associated with sudden infant death syndrome

(2018) Catherine A. Brownstein et al.   EPILEPSIA

Development and content validation of a preliminary core set of patient- and caregiver-relevant outcomes for inclusion in a potential composite endpoint for Dravet Syndrome

(2018) Rima Nabbout et al.   EPILEPSY & BEHAVIOR

Pathophysiological mechanisms of migraine and epilepsy: Similarities and differences

(2018) Massimo Mantegazza et al.   NEUROSCIENCE LETTERS

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

(2018) Candace T. Myers et al.   NEW ENGLAND JOURNAL OF MEDICINE

Gain of Function for the SCN1A/hNav1.1-L1670W Mutation Responsible for Familial Hemiplegic Migraine

(2018) Sandra Dhifallah et al.   Frontiers in Molecular Neuroscience

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies

(2018) Gemma L. Carvill et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies

(2018)   Nature Communications

De novoSCN1Apathogenic variants in the GEFS+ spectrum: Not always a familial syndrome

(2017) Kenneth A. Myers et al.   EPILEPSIA

Age-related “Sleep/nocturnal” tonic and tonic clonic seizure clusters are underdiagnosed in patients with Dravet Syndrome

(2017) Emma Losito et al.   EPILEPSY & BEHAVIOR

Treatment issues for children with epilepsy transitioning to adult care

(2017) Rima Nabbout et al.   EPILEPSY & BEHAVIOR

Dravet syndrome: Characteristics, comorbidities, and caregiver concerns

(2017) Nicole Villas et al.   EPILEPSY & BEHAVIOR

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

(2017) Andrew S Allen et al.   LANCET NEUROLOGY

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

Genetic epilepsy with febrile seizures plus

(2017) Yue-Hua Zhang et al.   NEUROLOGY

Cannabidiol attenuates seizures and social deficits in a mouse model of Dravet syndrome

(2017) Joshua S. Kaplan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Genetic Basis of Sudden Unexpected Death in Epilepsy

(2017) Richard D. Bagnall et al.   Frontiers in Neurology

Sudden unexpected death in epilepsy genetics: Molecular diagnostics and prevention

(2016) Alica M. Goldman et al.   EPILEPSIA

Autism and behavior in adult patients with Dravet syndrome (DS)

(2015) J.J.L. Berkvens et al.   EPILEPSY & BEHAVIOR

Mosaic mutations in early-onset genetic diseases

(2015) Matt Halvorsen et al.   GENETICS IN MEDICINE

Targeted DNA Sequencing from Autism Spectrum Disorder Brains Implicates Multiple Genetic Mechanisms

(2015) Alissa M. D’Gama et al.   NEURON

Impaired Action Potential Initiation in GABAergic Interneurons Causes Hyperexcitable Networks in an Epileptic Mouse Model Carrying a Human NaV1.1 Mutation

(2014) U. B. S. Hedrich et al.   JOURNAL OF NEUROSCIENCE

Genetic determinants of common epilepsies: a meta-analysis of genome-wide association studies

(2014)   LANCET NEUROLOGY

Chaos and commotion in the wake of cortical spreading depression and spreading depolarizations

(2014) Daniela Pietrobon et al.   NATURE REVIEWS NEUROSCIENCE

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome

(2013) Ikuo Ogiwara et al.   HUMAN MOLECULAR GENETICS

Sudden unexpected death in a mouse model of Dravet syndrome

(2013) Franck Kalume et al.   JOURNAL OF CLINICAL INVESTIGATION

Encephalopathy in children with Dravet syndrome is not a pure consequence of epilepsy

(2013) Rima Nabbout et al.   Orphanet Journal of Rare Diseases

Altered Cardiac Electrophysiology and SUDEP in a Model of Dravet Syndrome

(2013) David S. Auerbach et al.   PLoS One

QT and P wave dispersion and heart rate variability in patients with Dravet syndrome

(2012) Yakup Ergul et al.   ACTA NEUROLOGICA BELGICA

Progressive Gait Deterioration in Adolescents With Dravet Syndrome

(2012) Jill M. Rodda et al.   ARCHIVES OF NEUROLOGY

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome

(2012) A. Brunklaus et al.   BRAIN

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

(2012) Giulia Barcia et al.   NATURE GENETICS

Specific deletion of NaV1.1 sodium channels in inhibitory interneurons causes seizures and premature death in a mouse model of Dravet syndrome

(2012) C. S. Cheah et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Novel SCN1A Mutation in a Proband With Malignant Migrating Partial Seizures of Infancy

(2011) Emily R. Freilich et al.   ARCHIVES OF NEUROLOGY

Insights into pathophysiology and therapy from a mouse model of Dravet syndrome

(2011) John C. Oakley et al.   EPILEPSIA

Retrospective multiinstitutional study of the prevalence of early death in Dravet syndrome

(2011) Masako Sakauchi et al.   EPILEPSIA

Unifying the definitions of sudden unexpected death in epilepsy

(2011) Lina Nashef et al.   EPILEPSIA

Electrical and autonomic cardiac function in patients with Dravet syndrome

(2011) Angelica B. Delogu et al.   EPILEPSIA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief

(2011) Joan V. Skluzacek et al.   EPILEPSIA

Autism in Dravet syndrome: Prevalence, features, and relationship to the clinical characteristics of epilepsy and mental retardation

(2011) Bing-Mei Li et al.   EPILEPSY & BEHAVIOR

Sporadic and familial hemiplegic migraine: pathophysiological mechanisms, clinical characteristics, diagnosis, and management

(2011) Michael Bjørn Russell et al.   LANCET NEUROLOGY

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

(2011) Brian J O'Roak et al.   NATURE GENETICS

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome

(2010) C. Depienne et al.   JOURNAL OF MEDICAL GENETICS

NaV1.1 channels and epilepsy

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

Timing of De Novo Mutagenesis — A Twin Study of Sodium-Channel Mutations

(2010) Lata Vadlamudi et al.   NEW ENGLAND JOURNAL OF MEDICINE

Does aSCN1Agene mutation confer earlier age of onset of febrile seizures in GEFS+?

(2009) Angelique E. J. Sijben et al.   EPILEPSIA

First Mutation in the Voltage-Gated Nav1.1 Subunit Gene SCN1A with Co-Occurring Familial Hemiplegic Migraine and Epilepsy

(2008) M-J Castro et al.   CEPHALALGIA

Two cases of sudden unexpected death in epilepsy in a GEFS+ family with an SCN1A mutation

(2008) Neeti Hindocha et al.   EPILEPSIA