A. Schneider

发表

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

J. Rosenfeld, I. Scheffer, H. Mefford, 2016, American journal of human genetics.

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

Lindsay J. Smith, I. Scheffer, H. Mefford, 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.

Epileptic spasms are a feature of DEPDC5 mTORopathy

G. Carvill, I. Scheffer, H. Mefford, 2015, Neurology: Genetics.

The clinical utility of exome sequencing and extended bioinformatic analyses in adolescents and adults with a broad range of neurological phenotypes: an Australian perspective

P. Kwan, Z. Ademi, S. Berkovic, 2020, Journal of the Neurological Sciences.

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.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

G. Carvill, I. Scheffer, H. Mefford, 2015, PLoS genetics.

Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families

I. Scheffer, J. Gécz, S. Berkovic, 2020, European Journal of Human Genetics.

Severe infantile onset developmental and epileptic encephalopathy caused by mutations in autophagy gene WDR45

G. Carvill, I. Scheffer, H. Mefford, 2018, Epilepsia.

Parental Mosaicism in "De Novo" Epileptic Encephalopathies.

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

CHD2 variants are a risk factor for photosensitivity in epilepsy

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

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

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

Mutations in the GABA Transporter SLC6A1 Cause Epilepsy with Myoclonic-Atonic Seizures.

G. Carvill, I. Scheffer, H. Mefford, 2015, American journal of human genetics.

Mortality in Dravet syndrome

I. Scheffer, E. Wirrell, V. Ramesh, 2016, Epilepsy Research.

Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.

G. Carvill, I. Scheffer, H. Mefford, 2018, American journal of human genetics.

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

G. Carvill, I. Scheffer, H. Mefford, 2018, Epilepsia.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.

P. Lockhart, I. Scheffer, H. Mefford, 2022, American journal of human genetics.

BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures

I. Scheffer, H. Mefford, A. Poduri, 2019, Developmental medicine and child neurology.

FBXO28 causes developmental and epileptic encephalopathy with profound intellectual disability

I. Scheffer, H. Mefford, N. Brunetti‐Pierri, 2020, Epilepsia.

Pathogenic MAST3 variants in the STK domain are associated with epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2021, bioRxiv.

The epilepsy phenotypic spectrum associated with a recurrent CUX2 variant

R. Pfundt, G. Carvill, I. Scheffer, 2018, Annals of neurology.

Development and Validation of a Prediction Model for Early Diagnosis of SCN1A-Related Epilepsies

I. Scheffer, M. Kattan, C. Depienne, 2022, Neurology.

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

Miguel A. Soler, Monika J. Madej, Nancy T. Malintan, 2019, Nature Communications.

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.

Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

P. Lockhart, I. Scheffer, R. Lister, 2021, Brain communications.

Defining Dravet syndrome: An essential pre‐requisite for precision medicine trials

I. Scheffer, A. Schneider, Wenhui Li, 2021, Epilepsia.

Complications of Influenza A or B Virus Infection in Individuals With SCN1A-Positive Dravet Syndrome

I. Scheffer, A. Kornberg, K. Howell, 2022, Neurology.

Rates of Status Epilepticus and Sudden Unexplained Death in Epilepsy in People With Genetic Developmental and Epileptic Encephalopathies

I. Scheffer, A. Schneider, Amy L. Schneider, 2023, Neurology.

Sleep problems in Dravet syndrome: a modifiable comorbidity

I. Scheffer, M. Davey, A. Schneider, 2018, Developmental medicine and child neurology.

Contribution of rare genetic variants to drug response in absence epilepsy

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

Somatic IDH1 variant (p.R132C) in an adult male with Maffucci syndrome.

N. Brown, C. Stutterd, S. Mandelstam, 2021, Cold Spring Harbor molecular case studies.

Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures

I. Scheffer, E. Thiele, S. Auvin, 2019, Developmental medicine and child neurology.