The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

Novel variants and phenotypes widen the phenotypic spectrum of GABRG2-related disorders

(2019) Jonna Komulainen-Ebrahim et al.   SEIZURE-EUROPEAN JOURNAL OF EPILEPSY

Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy

(2018) Melodie R. Winawer et al.   ANNALS OF NEUROLOGY

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations

(2018) Pauline Marzin et al.   BRAIN & DEVELOPMENT

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

(2018) Katherine B. Howell et al.   EPILEPSIA

Neonatal Onset of Epilepsy of Infancy with Migrating Focal Seizures Associated with a Novel GABRB3 Variant in Monozygotic Twins

(2018) Katalin Štěrbová et al.   NEUROPEDIATRICS

Parental Mosaicism in “De Novo” Epileptic Encephalopathies

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

OUP accepted manuscript

(2018)   BRAIN

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

(2018) Juliette Piard et al.   GENETICS IN MEDICINE

Novel SMC1A variant and epilepsy of infancy with migrating focal seizures: Expansion of the phenotype

(2017) Kathleen M. Gorman et al.   EPILEPSIA

Application of rare variant transmission disequilibrium tests to epileptic encephalopathy trio sequence data

(2017) Andrew S Allen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Clinical and molecular characterization ofKCNT1-related severe early-onset epilepsy

(2017) Amy McTague et al.   NEUROLOGY

Profile of neonatal epilepsies

(2017) Renée A. Shellhaas et al.   NEUROLOGY

Not all SCN1A epileptic encephalopathies are Dravet syndrome

(2017) Lynette G. Sadleir et al.   NEUROLOGY

Mutations in GABRB3

(2017) Rikke S. Møller et al.   NEUROLOGY

Early-Life Epilepsies and the Emerging Role of Genetic Testing

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

Mortality in Dravet syndrome

(2016) Monica S. Cooper et al.   EPILEPSY RESEARCH

Diagnostic Targeted Resequencing in 349 Patients with Drug-Resistant Pediatric Epilepsies Identifies Causative Mutations in 30 Different Genes

(2016) Elena Parrini et al.   HUMAN MUTATION

The genetic landscape of the epileptic encephalopathies of infancy and childhood

(2016) Amy McTague et al.   LANCET NEUROLOGY

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

(2016) Stephanie Fehr et al.   NEUROLOGY

Phenotypic spectrum of GABRA1

(2016) Katrine Johannesen et al.   NEUROLOGY

CDKL5 Gene-Related Epileptic Encephalopathy in Estonia: Four Cases, One Novel Mutation Causing Severe Phenotype in a Boy, and Overview of the Literature

(2016) Inga Talvik et al.   NEUROPEDIATRICS

RecessiveITPAmutations cause an early infantile encephalopathy

(2015) Sietske H. Kevelam et al.   ANNALS OF NEUROLOGY

Mutations inKCNT1cause a spectrum of focal epilepsies

(2015) Rikke S. Møller et al.   EPILEPSIA

Early and effective treatment ofKCNQ2encephalopathy

(2015) Tiziana Pisano et al.   EPILEPSIA

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

SCN2Aencephalopathy

(2015) Katherine B. Howell et al.   NEUROLOGY

Mutations in SLC12A5 in epilepsy of infancy with migrating focal seizures

(2015) Tommy Stödberg et al.   Nature Communications

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

(2014) Xiaochang Zhang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Early onset epileptic encephalopathy caused by de novoSCN8Amutations

(2014) Chihiro Ohba et al.   EPILEPSIA

PIGA mutations cause early-onset epileptic encephalopathies and distinctive features

(2014) M. Kato et al.   NEUROLOGY

SLC25A22is a novel gene for migrating partial seizures in infancy

(2013) Annapurna Poduri et al.   ANNALS OF NEUROLOGY

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

(2013) Amy McTague et al.   BRAIN

Exome sequencing reveals new causal mutations in children with epileptic encephalopathies

(2013) Krishna R. Veeramah et al.   EPILEPSIA

De novo mutations in epileptic encephalopathies

(2013) et al.   NATURE

The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria

(2012) Jennifer J. Johnston et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

(2012) Annapurna Poduri et al.   EPILEPSIA

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

(2012) Erin L Heinzen et al.   NATURE GENETICS

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

(2012) Giulia Barcia et al.   NATURE GENETICS

Multiplex Targeted Sequencing Identifies Recurrently Mutated Genes in Autism Spectrum Disorders

(2012) B. J. O'Roak et al.   SCIENCE

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

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

De novo SCN1A mutations in migrating partial seizures of infancy

(2011) D. Carranza Rojo et al.   NEUROLOGY

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

(2009) Giangennaro Coppola   EPILEPSIA