S. Bellows

发表

Does variation in NIPA2 contribute to genetic generalized epilepsy?

I. Scheffer, S. Berkovic, M. Hildebrand, 2014, Human Genetics.

Copy number variants are frequent in genetic generalized epilepsy with intellectual disability

G. Carvill, I. Scheffer, H. Mefford, 2013, Neurology.

Does variation in NIPA2 contribute to genetic generalized epilepsy?

I. Scheffer, S. Berkovic, M. Hildebrand, 2014, Human Genetics.

Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals

Michael R. Johnson, S. Gabriel, M. Daly, 2019, bioRxiv.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

G. Carvill, I. Scheffer, H. Mefford, 2016, Neurology.

Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance.

I. Scheffer, H. Mefford, E. Eichler, 2009, Human molecular genetics.

Epilepsy in families: Age at onset is a familial trait, independent of syndrome

M. Epstein, S. Berkovic, S. Xie, 2019, Annals of neurology.

Dravet syndrome as epileptic encephalopathy: evidence from long-term course and neuropathology

I. Scheffer, L. Martinian, S. Sisodiya, 2011, Brain : a journal of neurology.

Ultra-rare genetic variation in common epilepsies: a case-control sequencing study

Michael R. Johnson, I. Scheffer, H. Mefford, 2017, The Lancet Neurology.

Atypical multifocal Dravet syndrome lacks generalized seizures and may show later cognitive decline

I. Scheffer, J. Cross, S. Berkovic, 2014, Developmental medicine and child neurology.

Familial mesial temporal lobe epilepsy and the borderland of déjà vu

I. Scheffer, P. Kwan, M. Newton, 2017, Annals of neurology.

Phenotypic analysis of 303 multiplex families with common epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2017, Brain : a journal of neurology.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

François Dubeau, Frederick Andermann, Samuel F. Berkovic, 2013, Nature Genetics.

No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy

I. Scheffer, P. Striano, A. Becker, 2019, Epilepsia.

Loss of synaptic Zn2+ transporter function increases risk of febrile seizures

I. Scheffer, V. Wimmer, C. Reid, 2015, Scientific Reports.

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Colin A. Ellis, M. Daly, I. Scheffer, 2020, Brain : a journal of neurology.

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

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

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2017, Neurology.

Familial adult myoclonic epilepsy: recognition of mild phenotypes and refinement of the 2q locus.

Kate M. Lawrence, I. Scheffer, S. Berkovic, 2012, Archives of neurology.

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.

Physical Health, Media Use, and Mental Health in Children and Adolescents With ADHD During the COVID-19 Pandemic in Australia

M. Bellgrove, S. Faraone, M. Stokes, 2020, Journal of attention disorders.

Longitudinal Associations Between COVID-19 Stress and the Mental Health of Children With ADHD

M. Bellgrove, M. Stokes, A. Stringaris, 2023, Journal of attention disorders.

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

C. Gieger, I. Scheffer, T. Wienker, 2012, Human molecular genetics.

Genome-wide Association Analysis of Genetic Generalized Epilepsies Implicates Susceptibility Loci at 1q43, 2p16.1, 2q22.3 and 17q21.32 Epicure Consortium

C. Gieger, I. Scheffer, T. Wienker, 2022 .

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations

I. Scheffer, S. Berkovic, S. Baulac, 2013, Epilepsy Research.

Randomised Controlled Trial of a Behavioural Sleep Intervention, ‘Sleeping Sound’, for Autistic Children: 12-Month Outcomes and Moderators of Treatment

N. Rinehart, C. Mihalopoulos, Katrina Jane Williams, 2022, Journal of autism and developmental disorders.

Sleeping Sound Autism Spectrum Disorder (ASD): a randomised controlled trial of a brief behavioural sleep intervention in primary school‐aged autistic children

N. Rinehart, C. Mihalopoulos, Katrina Jane Williams, 2022, Journal of child psychology and psychiatry, and allied disciplines.

Sleeping sound with autism spectrum disorder (ASD): study protocol for an efficacy randomised controlled trial of a tailored brief behavioural sleep intervention for ASD

N. Rinehart, C. Mihalopoulos, Katrina Jane Williams, 2019, BMJ Open.

Quantitative analysis of phenotypic elements augments traditional electroclinical classification of common familial epilepsies

I. Scheffer, H. Mefford, D. Goldstein, 2019, Epilepsia.

Evaluation of non‐coding variation in GLUT1 deficiency

I. Scheffer, S. Berkovic, M. Bahlo, 2016, Developmental medicine and child neurology.

Glucose metabolism transporters and epilepsy: Only GLUT1 has an established role

I. Scheffer, S. Berkovic, K. Oliver, 2014, Epilepsia.

Evaluation of multiple putative risk alleles within the 15q13.3 region for genetic generalized epilepsy

Kate M. Lawrence, I. Scheffer, H. Mefford, 2015, Epilepsy Research.

Genetic epilepsy with febrile seizures plus

I. Scheffer, S. Berkovic, A. Bleasel, 2022 .

Anatomical categorization of isolated non-focal dystonia: novel and existing patterns using a data-driven approach

J. R. Younce, J. Luna, A. Deik, 2023, Dystonia.

Mutations in DEPDC5 cause familial focal epilepsy with variable foci

I. Scheffer, J. Gécz, F. Dubeau, 2013, Nature Genetics.

Evaluation of GLUT1 variation in non-acquired focal epilepsy

I. Scheffer, S. Berkovic, M. Hildebrand, 2017, Epilepsy Research.