L. Sadleir

发表

De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.

Michael R. Johnson, I. Scheffer, H. Mefford, 2014, American journal of human genetics.

The Epilepsy Phenome/Genome Project

I. Scheffer, N. Risch, R. Kuzniecky, 2013, Clinical trials.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

Klaus Lehnert, Holger Lerche, Annapurna Poduri, 2018, American journal of human genetics.

The phenotypic spectrum of X‐linked, infantile onset ALG13‐related developmental and epileptic encephalopathy

I. Scheffer, H. Mefford, J. Cross, 2021, Epilepsia.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

François Dubeau, Guillaume Bourque, Ange-Line Bruel, 2017, American journal of human genetics.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.

Electroclinical features of absence seizures in childhood absence epilepsy

I. Scheffer, M. Connolly, L. Sadleir, 2006, Neurology.

Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature

I. Scheffer, H. Mefford, A. Munnich, 2019, Human mutation.

GRIN2A mutations cause epilepsy-aphasia spectrum disorders

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Clinical genetic study of the epilepsy‐aphasia spectrum

I. Scheffer, S. Berkovic, Robert L L Smith, 2013, Epilepsia.

Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1

J. Shendure, G. Carvill, I. Scheffer, 2013, Nature Genetics.

Epidemiology of Treated Epilepsy in New Zealand Children

I. Scheffer, J. Stanley, L. Sadleir, 2021, Neurology.

Erratum: De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies (American Journal of Human Genetics (2014) 95(4) (360–370)(S0002929714003838)(10.1016/j.ajhg.2014.08.013))

Michael R. Johnson, I. Scheffer, H. Mefford, 2017 .

Safety and Tolerability of Transdermal Cannabidiol Gel in Children With Developmental and Epileptic Encephalopathies: A Nonrandomized Controlled Trial.

I. Scheffer, J. Hulihan, J. Messenheimer, 2021, JAMA network open.

EEG features of absence seizures in idiopathic generalized epilepsy: Impact of syndrome, age, and state

I. Scheffer, M. Connolly, L. Sadleir, 2009, Epilepsia.

The Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures

I. Scheffer, H. Mefford, R. Burgess, 2019, Annals of neurology.

Inherited RORB pathogenic variants: Overlap of photosensitive genetic generalized and occipital lobe epilepsy

I. Scheffer, H. Mefford, S. Berkovic, 2020, Epilepsia.

Not all SCN1A epileptic encephalopathies are Dravet syndrome

G. Carvill, I. Scheffer, H. Mefford, 2017, Neurology.

Rare copy number variants are an important cause of epileptic encephalopathies

I. Scheffer, H. Mefford, E. Eichler, 2011, Annals of neurology.

New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics

A. Verloes, S. Banka, T. Reimand, 2020, Genetics in Medicine.

Infantile‐onset myoclonic developmental and epileptic encephalopathy: A new RARS2 phenotype

I. Scheffer, M. Bahlo, S. Mandelstam, 2021, Epilepsia open.

Clinical genetic studies in benign childhood epilepsy with centrotemporal spikes

Leasha M. Lillywhite, I. Scheffer, S. Berkovic, 2012, Epilepsia.

Efficacy of cannabinoids in paediatric epilepsy

I. Scheffer, L. Sadleir, Shayma Ali, 2018, Developmental medicine and child neurology.

Acute Flaccid Paralysis from Echovirus Type 33 Infection

M. Pallansch, Q. S. Huang, M. Oberste, 2003, Journal of Clinical Microbiology.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

G. Carvill, I. Scheffer, H. Mefford, 2018, The New England journal of medicine.

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

I. Scheffer, H. Peeters, H. Mefford, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

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

Kate M. Lawrence, I. Scheffer, M. Nolan, 2012, Epilepsia.

Family studies of individuals with eyelid myoclonia with absences

I. Scheffer, A. Bleasel, D. Vears, 2012, Epilepsia.

CHD2 variants are a risk factor for photosensitivity in epilepsy

I. Scheffer, H. Mefford, R. Krause, 2015, Brain : a journal of neurology.

Autism and developmental disability caused by KCNQ3 gain‐of‐function variants

I. Scheffer, H. Mefford, D. Goldstein, 2019, Annals of neurology.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

I. Scheffer, H. Mefford, M. Mackay, 2020, Genetics in Medicine.

GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects

Anup D. Patel, Ethan M. Goldberg, I. Scheffer, 2017, Journal of Medical Genetics.

De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.

I. Scheffer, H. Mefford, E. Zackai, 2018, American journal of human genetics.

De Novo Mutations in PPP3CA Cause Severe Neurodevelopmental Disease with Seizures.

I. Scheffer, H. Mefford, D. Goldstein, 2017, American journal of human genetics.

Schizophrenia is a later‐onset feature of PCDH19 Girls Clustering Epilepsy

I. Scheffer, A. Bassett, D. Andrade, 2019, Epilepsia.

Damaging de novo missense variants in EEF1A2 lead to a developmental and degenerative epileptic‐dyskinetic encephalopathy

G. Carvill, I. Scheffer, H. Mefford, 2020, Human mutation.

Diverse genetic causes of polymicrogyria with epilepsy

I. Scheffer, H. Mefford, E. Eichler, 2021, Epilepsia.

PIGN encephalopathy: Characterizing the epileptology

I. Scheffer, H. Mefford, A. Reymond, 2022, Epilepsia.

Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome

I. Scheffer, H. Mefford, A. Munnich, 2020, Epilepsia.

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2

Tommaso Pippucci, Josemir W. Sander, Edouard Hirsch, 2019, Nature Communications.

Role of the sodium channel SCN9A in genetic epilepsy with febrile seizures plus and Dravet syndrome

I. Scheffer, E. Wirrell, M. Mackay, 2013, Epilepsia.

Spasms in children with definite and probable mitochondrial disease *

M. Connolly, L. Sadleir, G. Hendson, 2004, European journal of neurology.

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

G. Carvill, I. Scheffer, H. Mefford, 2022, Neurology.

Indications and prescribing patterns of antiseizure medications in children in New Zealand

I. Scheffer, L. Sadleir, N. Keenan, 2023, Developmental medicine and child neurology.

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

I. Scheffer, E. Haan, J. Gécz, 2015, Human molecular genetics.

Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?

Lauren E Bleakley, I. Scheffer, C. Reid, 2020, Frontiers in Neurology.

Heart rate variability in epilepsy: A potential biomarker of sudden unexpected death in epilepsy risk

I. Scheffer, J. Buchhalter, S. Zuberi, 2018, Epilepsia.

Exome‐based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy

I. Scheffer, S. Berkovic, S. Petrovski, 2016, Annals of neurology.

Genome-wide Polygenic Burden of Rare Deleterious Variants in Sudden Unexpected Death in Epilepsy

Josemir W Sander, I. Scheffer, A. Palotie, 2015, EBioMedicine.

Contribution of rare genetic variants to drug response in absence epilepsy

I. Scheffer, S. Berkovic, M. Bahlo, 2021, Epilepsy Research.

Developmental and epileptic encephalopathy: Personal utility of a genetic diagnosis for families

H. Mefford, L. Sadleir, Chontelle King, 2020, Epilepsia open.

Factors influencing clinical features of absence seizures

J. Carlin, I. Scheffer, M. Connolly, 2008, Epilepsia.

PCDH19 Pathogenic Variants in Males: Expanding the Phenotypic Spectrum.

I. Scheffer, J. Gécz, R. Møller, 2020, Advances in experimental medicine and biology.

Levetiracetam efficacy in PCDH19 Girls Clustering Epilepsy.

I. Scheffer, H. Mefford, J. Gécz, 2020, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Electroclinical features of absence seizures in sleep

Ingrid E. Scheffer, I. Scheffer, M. Connolly, 2011, Epilepsy Research.

Automatisms in absence seizures in children with idiopathic generalized epilepsy.

I. Scheffer, M. Connolly, L. Sadleir, 2009, Archives of neurology.

De Novo Pathogenic Variants in CACNA1E Cause Developmental and Epileptic Encephalopathy with Contractures, Macrocephaly, and Dyskinesias.

I. Scheffer, H. Mefford, E. Haan, 2019, American Journal of Human Genetics.

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

H. Mefford, P. May, R. Krause, 2017, American journal of human genetics.

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

J. Rosenfeld, I. Scheffer, H. Mefford, 2017, American journal of human genetics.

Familial Mesial Temporal Lobe Epilepsy: Clinical Spectrum and Genetic Evidence for a Polygenic Architecture

I. Scheffer, P. Striano, P. Kwan, 2023, Annals of neurology.

An international pilot study of an internet‐based platform to facilitate clinical research in epilepsy: The EpiNet project

P. Striano, J. Burneo, K. Srivastava, 2012, Epilepsia.

Factors influencing clinical features of absence seizures

J. Carlin, I. Scheffer, M. Connolly, 2008, Epilepsia.

De Novo Mutations in SLC1A2 and CACNA1A Are Important Causes of Epileptic Encephalopathies.

Michael R. Johnson, G. Carvill, I. Scheffer, 2016, American journal of human genetics.

EpiNet as a way of involving more physicians and patients in epilepsy research: Validation study and accreditation process

E. Whitham, H. Tan, P. Striano, 2017, Epilepsia open.

Loss of symmetric cell division of apical neural progenitors drives DENND5A-related developmental and epileptic encephalopathy

Rebecca C. Spillmann, Thomas M. Durcan, Vladimir S Fonov, 2024, Nature communications.