Developmental and epileptic encephalopathies: what we do and do not know

Scn8a Antisense Oligonucleotide Is Protective in Mouse Models of SCN8A Encephalopathy and Dravet Syndrome

(2020) Guy M. Lenk et al.   ANNALS OF NEUROLOGY

What are the epileptic encephalopathies?

(2020) Marina Trivisano et al.   CURRENT OPINION IN NEUROLOGY

SCN 2A channelopathies: Mechanisms and models

(2020) Ulrike B. S. Hedrich et al.   EPILEPSIA

Phenotypic spectrum and genetics of SCN 2A ‐related disorders, treatment options, and outcomes in epilepsy and beyond

(2020) Markus Wolff et al.   EPILEPSIA

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

(2020) Anne Rochtus et al.   EPILEPSIA

Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

(2020) Christopher H. Thompson et al.   JOURNAL OF GENERAL PHYSIOLOGY

CDKL5 Deficiency Disorder—A Complex Epileptic Encephalopathy

(2020) Martyna Jakimiec et al.   Brain Sciences

Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

(2019) Heather E. Olson et al.   PEDIATRIC NEUROLOGY

Tuberous Sclerosis Complex Genotypes and Developmental Phenotype

(2019) Laura S. Farach et al.   PEDIATRIC NEUROLOGY

mTOR Hyperactivity Levels Influence the Severity of Epilepsy and Associated Neuropathology in an Experimental Model of Tuberous Sclerosis Complex and Focal Cortical Dysplasia

(2019) Lena H. Nguyen et al.   JOURNAL OF NEUROSCIENCE

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review

(2019) M. Kuersten et al.   European Journal of Medical Genetics

The spectrum of intermediate SCN 8A ‐related epilepsy

(2019) Katrine M. Johannesen et al.   EPILEPSIA

Incidence and phenotypes of childhood-onset genetic epilepsies: a prospective population-based national cohort

(2019) Joseph D Symonds et al.   BRAIN

CDKL5 deficiency disorder: Relationship between genotype, epilepsy, cortical visual impairment, and development

(2019) Scott T. Demarest et al.   EPILEPSIA

Generalized tonic seizures with autonomic signs are the hallmark of SCN8A developmental and epileptic encephalopathy

(2019) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

SCN8A: When Neurons Are So Excited, They Just Can’t Hide It

(2019) Tracy S. Gertler et al.   Epilepsy Currents

Effects of antiepileptic drugs in a new TSC/mTOR-dependent epilepsy mouse model

(2019) Linda M. C. Koene et al.   Annals of Clinical and Translational Neurology

Early Clinical Predictors of Autism Spectrum Disorder in Infants with Tuberous Sclerosis Complex: Results from the EPISTOP Study

(2019) Romina Moavero et al.   Journal of Clinical Medicine

Characteristics of KCNQ 2 variants causing either benign neonatal epilepsy or developmental and epileptic encephalopathy

(2019) Ayako Goto et al.   EPILEPSIA

When Monogenic Isn’t Monogenic—Unravelling the Oligogenic Architecture of the Developmental and Epileptic Encephalopathies

(2019) Ingrid E. Scheffer et al.   Epilepsy Currents

Epilepsy and developmental disorders: Next generation sequencing in the clinic

(2019) Joseph D. Symonds et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Deciphering the concepts behind “Epileptic encephalopathy” and “Developmental and epileptic encephalopathy”

(2019) Ingrid E. Scheffer et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The phenotypic spectrum of SCN2A-related epilepsy

(2019) Claire Reynolds et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Fenfluramine for Treatment-Resistant Seizures in Patients With Dravet Syndrome Receiving Stiripentol-Inclusive Regimens

(2019) Rima Nabbout et al.   JAMA Neurology

Pharmacological Targeting of Neuronal Kv7.2/3 Channels: A Focus on Chemotypes and Receptor Sites

(2018) Francesco Miceli et al.   CURRENT MEDICINAL CHEMISTRY

PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum

(2018) Lacey Smith et al.   EPILEPSIA

Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders

(2018) Amanda S. Lindy et al.   EPILEPSIA

A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy

(2018) Talia A. Atkin et al.   EPILEPSIA

The role of mTOR inhibitors in preventing epileptogenesis in patients with TSC: Current evidence and future perspectives

(2018) Susanne Schubert-Bast et al.   EPILEPSY & BEHAVIOR

mTOR dysregulation and tuberous sclerosis-related epilepsy

(2018) Paolo Curatolo et al.   Expert Review of Neurotherapeutics

CDKL5 protein substitution therapy rescues neurological phenotypes of a mouse model of CDKL5 disorder

(2018) Stefania Trazzi et al.   HUMAN MOLECULAR GENETICS

A systematic review and meta-analysis of 271 PCDH19-variant individuals identifies psychiatric comorbidities, and association of seizure onset and disease severity

(2018) Kristy L Kolc et al.   MOLECULAR PSYCHIATRY

Progress in Understanding and Treating SCN2A -Mediated Disorders

(2018) Stephan J. Sanders et al.   TRENDS IN NEUROSCIENCES

mTOR dysregulation and tuberous sclerosis-related epilepsy

(2018) Paolo Curatolo et al.   Expert Review of Neurotherapeutics

The Efficacy of Ketogenic Diet for Specific Genetic Mutation in Developmental and Epileptic Encephalopathy

(2018) Ara Ko et al.   Frontiers in Neurology

Molecular and Synaptic Bases of CDKL5 Disorder

(2018) Yong-Chuan Zhu et al.   Developmental Neurobiology

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death

(2018) Kay L. Richards et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

(2018) Yuanyuan Liu et al.   BRAIN

Defining the electroclinical phenotype and outcome of PCDH19-related epilepsy: A multicenter study

(2018) Marina Trivisano et al.   EPILEPSIA

Clinical and molecular analysis of epilepsy-related genes in patients with Dravet syndrome

(2018) TieJia Jiang et al.   MEDICINE

Deletion of KCNQ2/3 potassium channels from PV+ interneurons leads to homeostatic potentiation of excitatory transmission

(2018) Heun Soh et al.   eLife

Operational classification of seizure types by the International League Against Epilepsy: Position Paper of the ILAE Commission for Classification and Terminology

(2017) Robert S. Fisher et al.   EPILEPSIA

ILAE classification of the epilepsies: Position paper of the ILAE Commission for Classification and Terminology

(2017) Ingrid E. Scheffer et al.   EPILEPSIA

Loss of CDKL5 in Glutamatergic Neurons Disrupts Hippocampal Microcircuitry and Leads to Memory Impairment in Mice

(2017) Sheng Tang et al.   JOURNAL OF NEUROSCIENCE

Aberrant Sodium Channel Currents and Hyperexcitability of Medial Entorhinal Cortex Neurons in a Mouse Model of SCN8A Encephalopathy

(2017) Matteo Ottolini et al.   JOURNAL OF NEUROSCIENCE

The Impact of Next-Generation Sequencing on the Diagnosis and Treatment of Epilepsy in Paediatric Patients

(2017) Davide Mei et al.   Molecular Diagnosis & Therapy

A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations

(2017) Ana Vilan et al.   Neonatology

CDKL5 controls postsynaptic localization of GluN2B-containing NMDA receptors in the hippocampus and regulates seizure susceptibility

(2017) Kosuke Okuda et al.   NEUROBIOLOGY OF DISEASE

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome

(2017) Orrin Devinsky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Optimizing the Diagnosis and Management of Dravet Syndrome: Recommendations From a North American Consensus Panel

(2017) Elaine C. Wirrell et al.   PEDIATRIC NEUROLOGY

Expert Opinion on the Management of Lennox–Gastaut Syndrome: Treatment Algorithms and Practical Considerations

(2017) J. Helen Cross et al.   Frontiers in Neurology

Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1

(2016) Grazia Della Sala et al.   BIOLOGICAL PSYCHIATRY

Efficacy of antiepileptic drugs for the treatment of Dravet syndrome with different genotypes

(2016) Xiu-Yu Shi et al.   BRAIN & DEVELOPMENT

A Kv7.2 mutation associated with early onset epileptic encephalopathy with suppression-burst enhances Kv7/M channel activity

(2016) Jérôme Devaux et al.   EPILEPSIA

TheSCN8Aencephalopathy mutation p.Ile1327Val displays elevated sensitivity to the anticonvulsant phenytoin

(2016) Bryan S. Barker et al.   EPILEPSIA

Infantile spasms and encephalopathy without preceding neonatal seizures caused byKCNQ2R198Q, a gain-of-function variant

(2016) John J. Millichap et al.   EPILEPSIA

Early onset epileptic encephalopathy or genetically determined encephalopathy with early onset epilepsy? Lessons learned from TSC

(2016) Paolo Curatolo et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

A deleterious Nav1.1 mutation selectively impairs telencephalic inhibitory neurons derived from Dravet Syndrome patients

(2016) Yishan Sun et al.   eLife

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

Summary of recommendations for the management of infantile seizures: Task Force Report for the ILAE Commission of Pediatrics

(2015) Jo M. Wilmshurst et al.   EPILEPSIA

Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency

(2015) Chuan Tan et al.   HUMAN MOLECULAR GENETICS

Functional and structural deficits of the dentate gyrus network coincide with emerging spontaneous seizures in an Scn1a mutant Dravet Syndrome model during development

(2015) Ming-Shian Tsai et al.   NEUROBIOLOGY OF DISEASE

The phenotypic spectrum of SCN8A encephalopathy

(2015) J. Larsen et al.   NEUROLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Remarkable Phenytoin Sensitivity in 4 Children with SCN8A-related Epilepsy: A Molecular Neuropharmacological Approach

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Genotype/Phenotype Correlations in Tuberous Sclerosis Complex

(2015) Paolo Curatolo et al.   Seminars in Pediatric Neurology

Characterizing PCDH19 in human induced pluripotent stem cells (iPSCs) and iPSC-derived developing neurons: emerging role of a protein involved in controlling polarity during neurogenesis

(2015) Claudia Compagnucci et al.   Oncotarget

Recurrent and Non-Recurrent Mutations of SCN8A in Epileptic Encephalopathy

(2015) Jacy L. Wagnon et al.   Frontiers in Neurology

Intellectual development before and after the onset of infantile spasms: A controlled prospective longitudinal study in tuberous sclerosis

(2014) Ayla Humphrey et al.   EPILEPSIA

Early developmental trajectories associated with ASD in infants with tuberous sclerosis complex

(2014) S. S. Jeste et al.   NEUROLOGY

Dominant-negative effects ofKCNQ2mutations are associated with epileptic encephalopathy

(2013) Gökce Orhan et al.   ANNALS OF NEUROLOGY

Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study

(2013) S. Boronat et al.   CLINICAL GENETICS

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis et al.   NEUROLOGY

Sudden unexpected death in Dravet syndrome: Respiratory and other physiological dysfunctions

(2013) Franck Kalume   RESPIRATORY PHYSIOLOGY & NEUROBIOLOGY

The Role of Mechanistic Target of Rapamycin (mTOR) Complexes Signaling in the Immune Responses

(2013) Ghada Soliman   Nutrients

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

(2012) Sung Han et al.   NATURE

CDKL5 ensures excitatory synapse stability by reinforcing NGL-1–PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons

(2012) Sara Ricciardi et al.   NATURE CELL BIOLOGY

Modulation of voltage-gated K+ channels by the sodium channel  1 subunit

(2012) H. M. Nguyen et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

GABAergic Interneuron Development and Function Is Modulated by the Tsc1 Gene

(2011) Cary Fu et al.   CEREBRAL CORTEX

Long-term neurological outcome in children with early-onset epilepsy associated with tuberous sclerosis

(2011) Raffaella Cusmai et al.   EPILEPSY & BEHAVIOR

Myoclonic astatic epilepsy: An age-dependent epileptic syndrome with favorable seizure outcome but variable cognitive evolution

(2011) Marina Trivisano et al.   EPILEPSY RESEARCH

Antiepileptic treatment before the onset of seizures reduces epilepsy severity and risk of mental retardation in infants with tuberous sclerosis complex

(2011) Sergiusz Jóźwiak et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex

(2011) A. L. Numis et al.   NEUROLOGY

Diagnosing photosensitive epilepsy: Fancy new versus old fashioned techniques in patients with different epileptic syndromes

(2010) Nicola Specchio et al.   BRAIN & DEVELOPMENT

Sodium channel SCN1A and epilepsy: Mutations and mechanisms

(2010) Andrew Escayg et al.   EPILEPSIA

NaV1.1 channels and epilepsy

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

KV7 channelopathies

(2010) Snezana Maljevic et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

The natural history of epilepsy in tuberous sclerosis complex

(2009) Catherine J. Chu-Shore et al.   EPILEPSIA

Early control of seizures improves long-term outcome in children with tuberous sclerosis complex

(2009) Roberta Bombardieri et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

(2009) Christel Depienne et al.   PLoS Genetics

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

(2008) Leanne M Dibbens et al.   NATURE GENETICS

Reversal of learning deficits in a Tsc2 +/− mouse model of tuberous sclerosis

(2008) Dan Ehninger et al.   NATURE MEDICINE