ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions

Methodology for classification and definition of epilepsy syndromes with list of syndromes: Report of the ILAE Task Force on Nosology and Definitions

(2022) Elaine C. Wirrell et al.   EPILEPSIA

The severe epilepsy syndromes of infancy: A population‐based study

(2021) Katherine B. Howell et al.   EPILEPSIA

The ILAE classification of seizures and the epilepsies: Modification for seizures in the neonate. Position paper by the ILAE Task Force on Neonatal Seizures

(2021) Ronit M. Pressler et al.   EPILEPSIA

Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures

(2021) Marie‐Coralie Cornet et al.   EPILEPSIA

A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy

(2020) Kristy L. Kolc et al.   Translational Psychiatry

Consensus guidelines for the diagnosis and management of pyridoxine‐dependent epilepsy due to α‐aminoadipic semialdehyde dehydrogenase deficiency

(2020) Curtis R. Coughlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

The utility of arterial spin labeling in the presurgical evaluation of poorly defined focal epilepsy in children

(2020) Jack Lam et al.   Journal of Neurosurgery-Pediatrics

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

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

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

(2019) Curtis R. Coughlin et al.   JOURNAL OF INHERITED METABOLIC DISEASE

SCN1A gain of function in early infantile encephalopathy

(2019) Géza Berecki et al.   ANNALS OF NEUROLOGY

Early magnetic resonance imaging to detect presymptomatic leptomeningeal angioma in children with suspected Sturge–Weber syndrome

(2019) Claire Bar et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

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

KCNT1 epilepsy with migrating focal seizures shows a temporal sequence with poor outcome, high mortality and SUDEP

(2019) Mathieu Kuchenbuch et al.   BRAIN

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

(2019) Ayako Goto et al.   EPILEPSIA

Neonatal developmental and epileptic encephalopathies

(2019) Charbel El Kosseifi et al.   Seminars in Pediatric Neurology

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

(2019) Rosemary Burgess et al.   ANNALS OF NEUROLOGY

Clinical and genetic features in pyridoxine‐dependent epilepsy: a Chinese cohort study

(2019) Xianru Jiao et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The role of PCDH19 in refractory status epilepticus

(2019) Marina Trivisano et al.   EPILEPSY & BEHAVIOR

Genetic potassium channel-associated epilepsies: Clinical review of the Kv family

(2019) Nicholas M. Allen et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Electroclinical findings and long-term outcomes in epileptic patients with inv dup (15)

(2018) S. Matricardi et al.   ACTA NEUROLOGICA SCANDINAVICA

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

(2018) Amanda S. Lindy et al.   EPILEPSIA

Causes of mortality in early infantile epileptic encephalopathy: A systematic review

(2018) Graciane Radaelli et al.   EPILEPSY & BEHAVIOR

Targeted gene panel and genotype-phenotype correlation in children with developmental and epileptic encephalopathy

(2018) Ara Ko et al.   EPILEPSY RESEARCH

Spikes might precede seizures and predict epilepsy in children with Sturge-Weber syndrome: A pilot study

(2018) Claire Bar et al.   EPILEPSY RESEARCH

GLUT-1 deficiency presenting with seizures and reversible leukoencephalopathy on MRI imaging

(2018) Naila Ismayilova et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?

(2018) R.L.P. de Rooy et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings

(2018) Rangan Srinivasaraghavan et al.   NEUROPEDIATRICS

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

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

Infantile spasms of unknown cause: predictors of outcome and geneotype-phenotype correlation

(2018) Christopher J. Yuskaitis et al.   PEDIATRIC NEUROLOGY

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy

(2018) Kavitha Kothur et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

The phenotype of SCN8A developmental and epileptic encephalopathy

(2018) Elena Gardella et al.   NEUROLOGY

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

(2018) Marina Trivisano et al.   EPILEPSIA

Quantitative analysis and EEG markers of KCNT1 epilepsy of infancy with migrating focal seizures

(2018) Mathieu Kuchenbuch et al.   EPILEPSIA

PEHO syndrome: the endpoint of different genetic epilepsies

(2018) Manali Chitre et al.   JOURNAL OF MEDICAL GENETICS

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

(2017) Kenneth A. Myers et al.   EPILEPSIA

Heterozygous truncation mutations of theSMC1Agene cause a severe early onset epilepsy with cluster seizures in females: Detailed phenotyping of 10 new cases

(2017) Joseph D. Symonds et al.   EPILEPSIA

Dravet syndrome and its mimics: Beyond SCN1A

(2017) Dora Steel 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

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

(2017) Emma Losito et al.   EPILEPSY & BEHAVIOR

Male patients affected by mosaic PCDH19 mutations: five new cases

(2017) I. M. de Lange et al.   NEUROGENETICS

Paroxysmal eye–head movements in Glut1 deficiency syndrome

(2017) Toni S. Pearson et al.   NEUROLOGY

Profile of neonatal epilepsies

(2017) Renée A. Shellhaas et al.   NEUROLOGY

Clinical and genetic factors predicting Dravet syndrome in infants with SCN1A mutations

(2017) Valentina Cetica et al.   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

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

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

Brain correlates of spike and wave discharges in GLUT1 deficiency syndrome

(2017) Anna Elisabetta Vaudano et al.   NeuroImage-Clinical

Mutations of the Sonic Hedgehog Pathway Underlie Hypothalamic Hamartoma with Gelastic Epilepsy

(2016) Michael S. Hildebrand et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B 6 -Dependent Epilepsy

(2016) Niklas Darin et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Benign infantile seizures and paroxysmal dyskinesia caused by anSCN8Amutation

(2016) Elena Gardella et al.   ANNALS OF NEUROLOGY

Longitudinal course of epilepsy in Rett syndrome and related disorders

(2016) Daniel C. Tarquinio et al.   BRAIN

Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

(2016) Carmen Barba et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Rapid and safe response to low-dose carbamazepine in neonatal epilepsy

(2016) Tristan T. Sands et al.   EPILEPSIA

Autism spectrum disorder phenotype and intellectual disability in females with epilepsy and PCDH-19 mutations

(2016) Delphine Breuillard et al.   EPILEPSY & BEHAVIOR

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

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

The Epidemiology of Global Epilepsy

(2016) Anuradha Singh et al.   NEUROLOGIC CLINICS

Seizure variables and their relationship to genotype and functional abilities in the CDKL5 disorder

(2016) Stephanie Fehr et al.   NEUROLOGY

STXBP1encephalopathy

(2016) Hannah Stamberger et al.   NEUROLOGY

Predictors of Cognitive Functions in Children With Sturge–Weber Syndrome: A Longitudinal Study

(2016) Edit Bosnyák et al.   PEDIATRIC NEUROLOGY

Sturge-Weber Syndrome: Brain Magnetic Resonance Imaging and Neuropathology Findings

(2016) Anna L. Pinto et al.   PEDIATRIC NEUROLOGY

Effectiveness of antiepileptic therapy in patients with PCDH19 mutations

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

Amenable Treatable Severe Pediatric Epilepsies

(2016) Phillip L. Pearl   Seminars in Pediatric Neurology

De novoKCNT1mutations in early-onset epileptic encephalopathy

(2015) Chihiro Ohba et al.   EPILEPSIA

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

Surgical treatment for refractory epileptic spasms: The Detroit series

(2015) Harry T. Chugani et al.   EPILEPSIA

Familial neonatal seizures in 36 families: Clinical and genetic features correlate with outcome

(2015) Bronwyn E. Grinton et al.   EPILEPSIA

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

Topography of brain glucose hypometabolism and epileptic network in glucose transporter 1 deficiency

(2015) Cigdem Inan Akman et al.   EPILEPSY RESEARCH

Characteristic Features of the Interictal EEG Background in 2 Patients With Malignant Migrating Partial Epilepsy in Infancy

(2015) Olga Selioutski et al.   JOURNAL OF CLINICAL NEUROPHYSIOLOGY

A prospective study of risk for Sturge-Weber syndrome in children with upper facial port-wine stain

(2015) Anne-Sophie Dutkiewicz et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Incidence of Dravet Syndrome in a US Population

(2015) Y. W. Wu et al.   PEDIATRICS

Current Therapeutic Options in Sturge-Weber Syndrome

(2015) Anne Comi   Seminars in Pediatric Neurology

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

(2014) P. B. Mills et al.   BRAIN

New vascular classification of port-wine stains: improving prediction of Sturge-Weber risk

(2014) R. Waelchli et al.   BRITISH JOURNAL OF DERMATOLOGY

Sturge-Weber Syndrome. Study of 55 Patients

(2014) Ignacio Pascual-Castroviejo et al.   CANADIAN JOURNAL OF NEUROLOGICAL SCIENCES

Lamotrigine can be beneficial in patients with Dravet syndrome

(2014) Linda Dalic et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

The variable phenotypes of KCNQ-related epilepsy

(2014) Nicholas M. Allen et al.   EPILEPSIA

Cognitive and adaptive evaluation of 21 consecutive patients with Dravet syndrome

(2014) Nathalie Villeneuve et al.   EPILEPSY & BEHAVIOR

EEG evolution in Sturge-Weber syndrome

(2014) Eric H. Kossoff et al.   EPILEPSY RESEARCH

Paternal germline mosaicism of a SCN2A mutation results in Ohtahara syndrome in half siblings

(2014) Ayelet Zerem et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

GLUT1 deficiency syndrome into adulthood: a follow-up study

(2014) W. G. Leen et al.   JOURNAL OF NEUROLOGY

Focal epilepsy in Glucose transporter type 1 (Glut1) defects: case reports and a review of literature

(2014) Stefan Wolking et al.   JOURNAL OF NEUROLOGY

Migrating partial seizures of infancy: expansion of the electroclinical, radiological and pathological disease spectrum

(2013) Amy McTague et al.   BRAIN

Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013

(2013) Piero Pavone et al.   BRAIN & DEVELOPMENT

Clinical spectrum of early onset epileptic encephalopathies caused byKCNQ2mutation

(2013) Mitsuhiro Kato et al.   EPILEPSIA

Genetic testing in benign familial epilepsies of the first year of life: Clinical and diagnostic significance

(2013) Federico Zara et al.   EPILEPSIA

Dravet syndrome: New potential genetic modifiers, imaging abnormalities, and ictal findings

(2013) Eija Gaily et al.   EPILEPSIA

Early onset epilepsy is associated with increased mortality: A population-based study

(2013) Brian D. Moseley et al.   EPILEPSY RESEARCH

A proposed diagnostic approach for infantile spasms based on a spectrum of variable aetiology

(2013) Anne-Lise Poulat et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Role ofPRRT2in common paroxysmal neurological disorders: a gene with remarkable pleiotropy

(2013) Sarah E Heron et al.   JOURNAL OF MEDICAL GENETICS

Child Neurology: Differential diagnosis of a low CSF glucose in children and young adults

(2013) W. G. Leen et al.   NEUROLOGY

Extending the KCNQ2 encephalopathy spectrum: Clinical and neuroimaging findings in 17 patients

(2013) S. Weckhuysen et al.   NEUROLOGY

KCNQ2 encephalopathy: Delineation of the electroclinical phenotype and treatment response

(2013) A. L. Numis et al.   NEUROLOGY

Sturge–Weber Syndrome and Port-Wine Stains Caused by Somatic Mutation in GNAQ

(2013) Matthew D. Shirley et al.   NEW ENGLAND JOURNAL OF MEDICINE

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

(2013) Mathieu Milh et al.   Orphanet Journal of Rare Diseases

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

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

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

Long-term outcome in pyridoxine-dependent epilepsy

(2012) LEVINUS A BOK 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

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

The CDKL5 disorder is an independent clinical entity associated with early-onset encephalopathy

(2012) Stephanie Fehr et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A Novel STXBP1 Mutation Causes Focal Seizures With Neonatal Onset

(2012) Matteo Vatta et al.   JOURNAL OF CHILD NEUROLOGY

Epilepsy in poor regions of the world

(2012) Charles R Newton et al.   LANCET

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

(2012) Giulia Barcia et al.   NATURE GENETICS

PRRT2 links infantile convulsions and paroxysmal dyskinesia with migraine

(2012) R. Cloarec et al.   NEUROLOGY

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

A case of malignant migrating partial seizures in infancy as a continuum of infantile epileptic encephalopathy

(2011) Eun Hye Lee et al.   BRAIN & DEVELOPMENT

CDKL5 gene-related epileptic encephalopathy: electroclinical findings in the first year of life

(2011) FEDERICO MELANI et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Neuroimaging and neuropathology of Dravet syndrome

(2011) Renzo Guerrini et al.   EPILEPSIA

Dravet syndrome: The long-term outcome

(2011) Pierre Genton et al.   EPILEPSIA

Epileptic and nonepileptic features in patients with early onset epileptic encephalopathy and STXBP1 mutations

(2011) Mathieu Milh et al.   EPILEPSIA

The effect of lead time to treatment and of age of onset on developmental outcome at 4 years in infantile spasms: Evidence from the United Kingdom Infantile Spasms Study

(2011) Finbar J. K. O’Callaghan et al.   EPILEPSIA

Incidence and classification of new-onset epilepsy and epilepsy syndromes in children in Olmsted County, Minnesota from 1980 to 2004: A population-based study

(2011) Elaine C. Wirrell et al.   EPILEPSY RESEARCH

Electroencephalographic Features in Dravet Syndrome

(2011) Nicola Specchio et al.   JOURNAL OF CHILD NEUROLOGY

Pyridoxine dependent epilepsy and antiquitin deficiency

(2011) Sylvia Stockler et al.   MOLECULAR GENETICS AND METABOLISM

A distinctive seizure type in patients with CDKL5 mutations: Hypermotor-tonic-spasms sequence

(2011) K. M. Klein et al.   NEUROLOGY

Clinical Outcomes in Bilateral Sturge-Weber Syndrome

(2011) Bálint Alkonyi et al.   PEDIATRIC NEUROLOGY

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder

(2010) W. G. Leen et al.   BRAIN

Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency)

(2010) Philippa B. Mills et al.   BRAIN

Epilepsies and epileptic syndromes starting in the neonatal period

(2010) Hitoshi Yamamoto et al.   BRAIN & DEVELOPMENT

The underlying etiology of infantile spasms (West syndrome): Information from the United Kingdom Infantile Spasms Study (UKISS) on contemporary causes and their classification2

(2010) John P. Osborne 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

Absence epilepsies with widely variable onset are a key feature of familial GLUT1 deficiency

(2010) S. A. Mullen et al.   NEUROLOGY

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

(2009) Francesca Ragona et al.   BRAIN & DEVELOPMENT

Malignant migrating partial seizures in Aicardi syndrome

(2009) Bosanka Jocic-Jakubi et al.   DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY

Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology

(2009) Giangennaro Coppola   EPILEPSIA

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

(2009) Christel Depienne et al.   PLoS Genetics

Epilepsy and mental retardation limited to females: an under-recognized disorder

(2008) Ingrid E. Scheffer et al.   BRAIN

Key clinical features to identify girls with CDKL5 mutations

(2008) Nadia Bahi-Buisson et al.   BRAIN

The three stages of epilepsy in patients withCDKL5mutations

(2008) Nadia Bahi-Buisson et al.   EPILEPSIA

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

(2008) Anne T. Berg et al.   EPILEPSIA

Prevalence ofALDH7A1mutations in 18 North American pyridoxine-dependent seizure (PDS) patients

(2008) Craig L. Bennett et al.   EPILEPSIA

An unexpected EEG course in Dravet syndrome

(2008) Rima Nabbout et al.   EPILEPSY RESEARCH

Migrating Focal Seizures in Infancy: Analysis of the Electroclinical Patterns in 17 Patients

(2008) Roberto Horacio Caraballo et al.   JOURNAL OF CHILD NEUROLOGY

TREATMENT MODALITY FOR INTRACTABLE EPILEPSY IN HYPOTHALAMIC HAMARTOMATOUS LESIONS

(2008) Kyu-Won Shim et al.   NEUROSURGERY