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

Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact

(2018) J. Wynn et al.   CLINICAL GENETICS

Next-generation sequencing improves treatment efficacy and reduces hospitalization in children with drug-resistant epilepsy

(2018) Jing Peng et al.   CNS Neuroscience & Therapeutics

Stiripentol efficacy and safety in Dravet syndrome: a 12-year observational study

(2018) Kenneth A Myers et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A population-based cost-effectiveness study of early genetic testing in severe epilepsies of infancy

(2018) Katherine B. Howell et al.   EPILEPSIA

Influence of contraindicated medication use on cognitive outcome in Dravet syndrome and age at first afebrile seizure as a clinical predictor in SCN1A -related seizure phenotypes

(2018) Iris M. de Lange 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

Defining the phenotypic spectrum of SLC6A1 mutations

(2018) Katrine M. Johannesen et al.   EPILEPSIA

De novo variants in neurodevelopmental disorders with epilepsy

(2018) Henrike O. Heyne et al.   NATURE GENETICS

Effect of Cannabidiol on Drop Seizures in the Lennox–Gastaut Syndrome

(2018) Orrin Devinsky et al.   NEW ENGLAND JOURNAL OF MEDICINE

Does age affect response to quinidine in patients with KCNT1 mutations? Report of three new cases and review of the literature

(2018) Elie Abdelnour et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

A phenotype centric benchmark of variant prioritisation tools

(2018) Denise Anderson et al.   npj Genomic Medicine

Integrating exome sequencing into a diagnostic pathway for epileptic encephalopathy: Evidence of clinical utility and cost effectiveness

(2018) Elizabeth E. Palmer et al.   Molecular Genetics & Genomic Medicine

Long-term cannabidiol treatment in patients with Dravet syndrome: An open-label extension trial

(2018) Orrin Devinsky et al.   EPILEPSIA

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

(2017) Kenneth A. Myers 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

Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients

(2017) Zhan Lim et al.   EPILEPSIA

Genetic analysis of benign familial epilepsies in the first year of life in a Chinese cohort

(2017) Qi Zeng et al.   JOURNAL OF HUMAN GENETICS

Precision therapy for epilepsy due toKCNT1mutations

(2017) Saul A. Mullen et al.   NEUROLOGY

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

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

Early-Life Epilepsies and the Emerging Role of Genetic Testing

(2017) Anne T. Berg et al.   JAMA Pediatrics

Epilepsy due to mutations in the mitochondrial polymerase gamma(POLG)gene: A clinical and molecular genetic review

(2016) Maria-Eleni Anagnostou 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

Incidence and outcome of epilepsy syndromes with onset in the first year of life: A retrospective population-based study

(2016) Eija Gaily et al.   EPILEPSIA

Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy

(2016) Katherine L. Helbig et al.   GENETICS IN MEDICINE

Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis

(2016) Natalie Trump et al.   JOURNAL OF MEDICAL GENETICS

Analysis of protein-coding genetic variation in 60,706 humans

(2016) Monkol Lek et al.   NATURE

Prevalence and incidence of epilepsy

(2016) Kirsten M. Fiest et al.   NEUROLOGY

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

(2016) Jan Lotte et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Use of dietary therapies amongst patients with GLUT1 deficiency syndrome

(2016) Hannah R. Kass et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The evolving spectrum ofPRRT2-associated paroxysmal diseases

(2015) Darius Ebrahimi-Fakhari et al.   BRAIN

Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs

(2015) L. Krabbenborg et al.   CLINICAL GENETICS

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

The role ofSLC2A1mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

(2015) Jan Larsen et al.   EPILEPSIA

The incidence ofSCN1A-related Dravet syndrome in Denmark is 1:22,000: A population-based study from 2004 to 2009

(2015) Allan Bayat et al.   EPILEPSIA

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

From splitting GLUT1 deficiency syndromes to overlapping phenotypes

(2015) Marie Hully et al.   European Journal of Medical Genetics

A roadmap for precision medicine in the epilepsies

(2015)   LANCET NEUROLOGY

Germline activating AKT3 mutation associated with megalencephaly, polymicrogyria, epilepsy and hypoglycemia

(2015) Mark Nellist et al.   MOLECULAR GENETICS AND METABOLISM

Paroxysmal kinesigenic dyskinesia

(2015) Xiao-Jun Huang et al.   NEUROLOGY

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

(2015) Ragna S. Boerma et al.   Neurotherapeutics

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

(2014) Silke Appenzeller et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted treatment of migrating partial seizures of infancy with quinidine

(2014) David Bearden et al.   ANNALS OF NEUROLOGY

KCNT1gain of function in 2 epilepsy phenotypes is reversed by quinidine

(2014) Carol J. Milligan et al.   ANNALS OF NEUROLOGY

Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders

(2014) Orrin Devinsky et al.   EPILEPSIA

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

PCDH19-related female-limited epilepsy: Further details regarding early clinical features and therapeutic efficacy

(2013) Norimichi Higurashi et al.   EPILEPSY RESEARCH

GLUT1 deficiency syndrome 2013: Current state of the art

(2013) Valentina De Giorgis et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

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

(2012) A. Brunklaus et al.   BRAIN

The clinical utility of anSCN1Agenetic diagnosis in infantile-onset epilepsy

(2012) ANDREAS BRUNKLAUS et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

A population-based study of newly diagnosed epilepsy in infants

(2012) Christin M. Eltze et al.   EPILEPSIA

Developmental outcomes of childhood-onset temporal lobe epilepsy: A community-based study

(2012) Sarah J. Wilson et al.   EPILEPSIA

Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes

(2012) Amanda W. Pong et al.   EPILEPSIA

Early onset absence epilepsy: 1 in 10 cases is caused by GLUT1 deficiency

(2012) Todor Arsov et al.   EPILEPSIA

Targeted next generation sequencing as a diagnostic tool in epileptic disorders

(2012) Johannes R. Lemke et al.   EPILEPSIA

Successful use of fenfluramine as an add-on treatment for Dravet syndrome

(2012) Berten Ceulemans et al.   EPILEPSIA

Predictors and course of medically intractable epilepsy in young children presenting before 36 months of age: A retrospective, population-based study

(2012) Elaine Wirrell et al.   EPILEPSIA

Age at onset of epilepsy, pharmacoresistance, and cognitive outcomes: A prospective cohort study

(2012) A. T. Berg et al.   NEUROLOGY

KCNQ2 encephalopathy: Emerging phenotype of a neonatal epileptic encephalopathy

(2011) Sarah Weckhuysen et al.   ANNALS OF NEUROLOGY

Glucose Transporter 1 Deficiency as a Treatable Cause of Myoclonic Astatic Epilepsy

(2011) Saul A. Mullen   ARCHIVES OF NEUROLOGY

Estimation of the burden of active and life-time epilepsy: A meta-analytic approach

(2010) Anthony K. Ngugi et al.   EPILEPSIA

Recommendations for the management of “febrile seizures” Ad hoc Task Force of LICE Guidelines Commission

(2009) Giuseppe Capovilla et al.   EPILEPSIA

Global cognitive function in children with epilepsy: A community-based study

(2008) Anne T. Berg et al.   EPILEPSIA