Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

Encephalopathy and SCN1A mutations

(2011) Shan Tang et al.   EPILEPSIA

Does genotype determine phenotype?: Sodium channel mutations in Dravet syndrome and GEFS+

(2011) I. E. Scheffer   NEUROLOGY

Genotype-phenotype associations in SCN1A-related epilepsies

(2011) S. M. Zuberi et al.   NEUROLOGY

Reliability of patterns of hippocampal sclerosis as predictors of postsurgical outcome

(2010) Maria Thom et al.   EPILEPSIA

A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

(2010) François Le Gal et al.   EPILEPSIA

The clinicopathologic spectrum of focal cortical dysplasias: A consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission1

(2010) Ingmar Blümcke et al.   EPILEPSIA

Revised terminology and concepts for organization of seizures and epilepsies: Report of the ILAE Commission on Classification and Terminology, 2005-2009

(2010) Anne T. Berg et al.   EPILEPSIA

Altered Function of theSCN1AVoltage-gated Sodium Channel Leads to γ-Aminobutyric Acid-ergic (GABAergic) Interneuron Abnormalities

(2010) Melinda S. Martin et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

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

Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study

(2010) Anne M McIntosh et al.   LANCET NEUROLOGY

Unusual consequences of status epilepticus in Dravet syndrome

(2010) M. Chipaux et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Translational Research in Epilepsy Genetics

(2009) Saul A. Mullen et al.   ARCHIVES OF NEUROLOGY

Missense mutation of the sodium channel gene SCN2A causes Dravet syndrome

(2009) Xiuyu Shi et al.   BRAIN & DEVELOPMENT

Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus?

(2009) Ingrid E. Scheffer et al.   BRAIN & DEVELOPMENT

Dravet syndrome: Early clinical manifestations and cognitive outcome in 37 Italian patients

(2009) Francesca Ragona et al.   BRAIN & DEVELOPMENT

A Topographic Study of Minicolumnar Core Width by Lamina Comparison between Autistic Subjects and Controls: Possible Minicolumnar Disruption due to an Anatomical Element In-Common to Multiple Laminae

(2009) Manuel F. Casanova et al.   BRAIN PATHOLOGY

SCN1Aduplications and deletions detected in Dravet syndrome: Implications for molecular diagnosis

(2009) Carla Marini et al.   EPILEPSIA

Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy

(2009) Takafumi Sakakibara et al.   EPILEPSIA

A long-term follow-up study of Dravet syndrome up to adulthood

(2009) Mari Akiyama et al.   EPILEPSIA

A Novel Inherited Mutation in the Voltage Sensor Region of SCN1A Is Associated With Panayiotopoulos Syndrome in Siblings and Generalized Epilepsy With Febrile Seizures Plus

(2009) John H. Livingston et al.   JOURNAL OF CHILD NEUROLOGY

Physicochemical property changes of amino acid residues that accompany missense mutations in SCN1A affect epilepsy phenotype severity

(2009) K Kanai et al.   JOURNAL OF MEDICAL GENETICS

A Functional Null Mutation of SCN1B in a Patient with Dravet Syndrome

(2009) G. A. Patino et al.   JOURNAL OF NEUROSCIENCE

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

Bilateral reorganization of the dentate gyrus in hippocampal sclerosis: A postmortem study

(2009) M. Thom et al.   NEUROLOGY

Temperature- and age-dependent seizures in a mouse model of severe myoclonic epilepsy in infancy

(2009) J. C. Oakley et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Role of SCN9A in Human Epilepsies, As a Cause of Febrile Seizures and As a Potential Modifier of Dravet Syndrome

(2009) Nanda A. Singh et al.   PLoS Genetics

Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females

(2009) Christel Depienne et al.   PLoS Genetics

NovelSCN1Aframeshift mutation with absence of truncated NaV1.1 protein in severe myoclonic epilepsy of infancy

(2008) Erin J. McArdle et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Cryptogenic Epileptic Syndromes Related to SCN1A

(2008) Claudio Zucca et al.   ARCHIVES OF NEUROLOGY

A catalog of SCN1A variants

(2008) Christoph Lossin   BRAIN & DEVELOPMENT

The role of cytokines in the pathophysiology of epilepsy

(2008) Annamaria Vezzani et al.   BRAIN BEHAVIOR AND IMMUNITY

DoSCN1Amutations protect from hippocampal sclerosis?

(2008)   EPILEPSIA

Risk of autism spectrum disorders after infantile spasms: A population-based study nested in a cohort with seizures in the first year of life

(2008) Evald Saemundsen et al.   EPILEPSIA

Clinical picture of EPM1-Unverricht-Lundborg disease

(2008) Reetta Kälviäinen et al.   EPILEPSIA

Deletion of the SCN gene cluster on 2q24.4 is associated with severe epilepsy: An array-based genotype–phenotype correlation and a comprehensive review of previously published cases

(2008) Josef Davidsson et al.   EPILEPSY RESEARCH

Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients

(2008) C Depienne et al.   JOURNAL OF MEDICAL GENETICS

Glial connexins and gap junctions in CNS inflammation and disease

(2008) Tammy Kielian   JOURNAL OF NEUROCHEMISTRY

Inherited Neuronal Ion Channelopathies: New Windows on Complex Neurological Diseases

(2008) W. A. Catterall et al.   JOURNAL OF NEUROSCIENCE

X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Innate and adaptive immunity during epileptogenesis and spontaneous seizures: Evidence from experimental models and human temporal lobe epilepsy

(2007) Teresa Ravizza et al.   NEUROBIOLOGY OF DISEASE