K. Howell

发表

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.

Epileptic encephalopathy: Use and misuse of a clinically and conceptually important concept

J. Archer, A. Harvey, K. Howell, 2016, Epilepsia.

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

Lindsay J. Smith, I. Scheffer, H. Mefford, 2021, Epilepsia.

Infantile Spasms of Unknown Cause: Predictors of Outcome and Genotype-Phenotype Correlation.

I. Scheffer, K. Kapur, M. Ruzhnikov, 2018, Pediatric neurology.

The phenotype of SCN8A developmental and epileptic encephalopathy

I. Scheffer, G. Rubboli, R. Møller, 2018, Neurology.

Epileptic spasms are a feature of DEPDC5 mTORopathy

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

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

I. Scheffer, H. Mefford, G. Cioni, 2021, Brain : a journal of 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.

SCN2A encephalopathy

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

Parental health spillover effects of paediatric rare genetic conditions

P. Lockhart, I. Scheffer, J. Christodoulou, 2020, Quality of Life Research.

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

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

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice

I. Scheffer, D. Gill, K. Howell, 2022, Developmental medicine and child neurology.

Natural History Studies and Clinical Trial Readiness for Genetic Developmental and Epileptic Encephalopathies

I. Scheffer, K. Howell, E. Palmer, 2021, Neurotherapeutics.

Concomitant transverse myelitis and acute motor axonal neuropathy in an adolescent.

M. Ryan, J. Wanigasinghe, K. Howell, 2007, Pediatric neurology.

Functional correlates of clinical phenotype and severity in recurrent SCN2A variants

I. Scheffer, S. Berkovic, S. Petrou, 2022, Communications Biology.

Genotype-phenotype correlations in SCN8A -related disorders reveal prognostic and therapeutic implications Short SCN8A -related genotype-phenotype correlations

Ethan M. Goldberg, Zara, Silvana, 2021 .

Heterozygous PNPT1 Variants Cause Spinocerebellar Ataxia Type 25

P. Lockhart, A. Durr, E. Storey, 2022, Annals of neurology.

Long‐term follow‐up of febrile infection–related epilepsy syndrome

I. Scheffer, K. Katanyuwong, M. Mackay, 2012, Epilepsia.

Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System.

N. Brown, S. Sandaradura, T. Roscioli, 2020, JAMA.

Typical and atypical phenotypes of PNPO deficiency with elevated CSF and plasma pyridoxamine on treatment

J. Pitt, K. Howell, E. Struys, 2014, Developmental Medicine & Child Neurology.

The genetic landscape of the epileptic encephalopathies of infancy and childhood

I. Scheffer, J. Cross, M. Kurian, 2016, The Lancet Neurology.

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

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

Dynamic action potential clamp predicts functional separation in mild familial and severe de novo forms of SCN2A epilepsy

I. Scheffer, S. Berkovic, S. Petrou, 2018, Proceedings of the National Academy of Sciences.

High resolution chromosomal microarray in undiagnosed neurological disorders

M. Mackay, A. Kornberg, M. Ryan, 2013, Journal of paediatrics and child health.

TBC1D24 genotype–phenotype correlation

J. Rosenfeld, I. Scheffer, J. Gécz, 2016, Neurology.

Second‐hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA

P. Lockhart, I. Scheffer, S. Berkovic, 2019, Annals of clinical and translational neurology.

Loss of function of SLC25A46 causes lethal congenital pontocerebellar hypoplasia.

P. Lockhart, S. Nelson, K. Zerres, 2016, Brain : a journal of neurology.

Symptomatic generalized epilepsy after HHV6 posttransplant acute limbic encephalitis in children

M. Mackay, A. Kornberg, K. Howell, 2012, Epilepsia.

Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.

I. Scheffer, M. Tartaglia, J. Christodoulou, 2020, American journal of human genetics.

Characterization of core clinical phenotypes associated with recurrent proximal 15q25.2 microdeletions

N. Brown, A. Kornberg, Z. Stark, 2014, American journal of medical genetics. Part A.

Early mortality in SCN8A-related epilepsies

I. Scheffer, G. Rubboli, R. Møller, 2018, Epilepsy Research.

Genotype-phenotype correlations in SCN8A-related disorders reveal prognostic and therapeutic implications

Ethan M. Goldberg, S. Scherer, J. Howe, 2021, medRxiv.

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

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

X-linked Recessive Distal Myopathy With Hypertrophic Cardiomyopathy Caused by a Novel Mutation in the FHL1 Gene

M. Ryan, K. Howell, C. Mclean, 2015, Journal of child neurology.

Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach

K. Friend, A. Fortuna, C. Shoubridge, 2015, Molecular genetics & genomic medicine.

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

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

Bi-allelic ADARB1 Variants Associated with Microcephaly, Intellectual Disability, and Seizures.

W. Chung, I. Helbig, J. Christodoulou, 2020, American journal of human genetics.

Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsy

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

Epidemiology and etiology of infantile developmental and epileptic encephalopathies in Tasmania

I. Scheffer, M. Mackay, S. Berkovic, 2019, Epilepsia open.

Temporal Lobe Malformations in Achondroplasia: Expanding the Brain Imaging Phenotype Associated with FGFR3-Related Skeletal Dysplasias

A. Fink, S. Mandelstam, R. Savarirayan, 2017, American Journal of Neuroradiology.

Locus Heterogeneity in Epilepsy of Infancy with Migrating Focal Seizures

G. Carvill, M. Mackay, J. Lundeberg, 2016 .

D.O.2 Microarray testing for developmental delay reveals an expanded clinical spectrum of dystrophinopathies

N. Laing, N. Clarke, M. Ryan, 2012, Neuromuscular Disorders.

Human Mutation

Anne de Saint Martin, I. Scheffer, H. Mefford, 2019 .

Response to sequential treatment with prednisolone and vigabatrin in infantile spasms

I. Scheffer, M. Fahey, K. Howell, 2022, Journal of Paediatrics and Child Health.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

I. Scheffer, C. Marshall, V. Chau, 2023, The Lancet Neurology.

ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

G. Matthijs, D. Reddihough, J. Jaeken, 2013, Molecular genetics and metabolism.

Epilepsy syndromes in cerebral palsy: varied, evolving and mostly self-limited.

M. Mackay, D. Reddihough, K. Howell, 2022, Brain : a journal of neurology.

De novo mutations in the classic epileptic encephalopathies

Michael R. Johnson, I. Scheffer, H. Mefford, 2013, Nature.

Fixed dilated pupils: Clues to an ACTA2 mutation allowing early stroke prevention

M. Mackay, K. Howell, E. Yiu, 2016, Journal of paediatrics and child health.

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

P. May, P. Striano, A. Wuster, 2023, Brain : a journal of neurology.

Botulinum neurotoxin A: An unusual systemic effect

P. Selber, D. Reddihough, K. Howell, 2007, Journal of paediatrics and child health.

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

I. Scheffer, C. Marshall, V. Chau, 2023, The Lancet Neurology.