J. Appendino

发表

The phenotypic spectrum of KCNT1: a new family with variable epilepsy syndromes including mild focal epilepsy

P. Federico, Christina Cherian, J. Appendino, 2021, Journal of Neurology.

Single-center experience with Beta-propeller protein-associated neurodegeneration (BPAN); expanding the phenotypic spectrum

J. Rho, J. Appendino, X. Wei, 2019, Molecular genetics and metabolism reports.

Outcomes trajectories in children with epilepsy: hypotheses and methodology of a Canadian longitudinal observational study.

M. Boyle, D. Streiner, L. Carmant, 2014, Pediatric neurology.

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

J. Lupski, R. Gibbs, S. Jhangiani, 2019, Annals of clinical and translational neurology.

DPPX potassium channel antibody

E. Wirrell, J. Matsumoto, C. Lucchinetti, 2014, Neurology.

SCN2A-related epilepsy of infancy with migrating focal seizures: report of a variant with apparent gain and loss of function effects.

J. Appendino, Ping-Yee B Au, M. Chahine, 2022, Journal of neurophysiology.

Case Report: Aicardi Syndrome presenting as Cleft Lip and Palate

J. Appendino, 2017 .

Implementation of Neonatal Neurocritical Care Program Improved Short-Term Outcomes in Neonates With Moderate-to-Severe Hypoxic Ischemic Encephalopathy.

J. Appendino, M. Esser, J. Buchhalter, 2019, Pediatric neurology.

Practice Guidelines for Canadian Neurophysiology Laboratories During the COVID-19 Pandemic

S. Mirsattari, M. Ng, J. Téllez-Zenteno, 2020, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

De novo Y1460C missense variant in NaV1.1 impedes the pore region and results in epileptic encephalopathy

J. Appendino, Ping-Yee B Au, M. Chahine, 2022, Scientific Reports.

Response from Authors to the Letter to the Editor

S. Mirsattari, M. Ng, J. Téllez-Zenteno, 2004, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Reflex Seizures in a Patient with CDKL5 Deficiency Disorder

J. Appendino, J. N. Hartley, C. Greenberg, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Cannabidiol counters the effects of a dominant-negative pathogenic Kv7.2 variant

R. W. Turner, J. Appendino, P. Au, 2022, iScience.

Automated quantification of spike-wave activity may be used to predict the development of electrical status epilepticus in sleep (ESES) in children with perinatal stroke

A. Kirton, J. Appendino, A. Mineyko, 2020, Clinical Neurophysiology.

Surgically Remediable Secondary Network Epileptic Encephalopathies With Continuous Spike Wave in Sleep: Lesions May Not Be Visible on Brain Magnetic Resonance Imaging (MRI)

Jeremy T. Moreau, F. Dubeau, B. Rosenblatt, 2022, Journal of child neurology.

Considering immunologic and genetic evaluation for HLH in neuroinflammation: A case of Griscelli syndrome type 2 with neurological symptoms and a lack of albinism

J. Appendino, X. Wei, N. Wright, 2020, Pediatric blood & cancer.

PURA-Related Developmental and Epileptic Encephalopathy

M. Reijnders, D. Segal, E. Wirrell, 2021, Neurology. Genetics.

Telehealth for Children With Epilepsy Is Effective and Reduces Anxiety Independent of Healthcare Setting

J. Appendino, Morris H. Scantlebury, J. Jacobs, 2021, Frontiers in Pediatrics.

Longstanding and Refractory Anti-Muscle Specific Tyrosine Kinase Antibody-Associated Myasthenia Gravis (Anti-MuSK-MG) in a Child Successfully Treated with Rituximab

J. Appendino, S. Weger, Ian H. Clark, 2019, Journal of binocular vision and ocular motility.

Correspondence on “Prospective Open-Label Clinical Trial of Trihexyphenidyl in Children With Secondary Dystonia due to Cerebral Palsy”

J. Appendino, T. Soman, 2008, Journal of child neurology.

A Case Series and Review of CDKL5 Deficiency Disorder: More than Rett

J. Appendino, J. N. Hartley, C. Greenberg, 2020 .

Asymptomatic Viral Gastrointestinal Infection: The Missing Link?

J. Appendino, Tyler Peikes, 2014, Pediatrics.

Update on Minimal Standards for Electroencephalography in Canada: A Review by the Canadian Society of Clinical Neurophysiologists

P. Federico, S. Mirsattari, J. Téllez-Zenteno, 2017, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

The Impact of Amplitude-Integrated Electroencephalography on NICU Practice

P. McNamara, J. Appendino, D. Stephens, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Effect of Training on Visual Identification of High Frequency Oscillations—A Delphi-Style Intervention

D. Gross, Y. Aghakhani, N. Pillay, 2022, Frontiers in Neurology.

Proposed Pathway for the Utilization of Pediatric Ambulatory EEG

J. Appendino, Morris H. Scantlebury, E. Payne, 2021, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Improving the regulation of medical cannabis in Canada to better serve pediatric patients

T. Oberlander, J. Appendino, Y. Finkelstein, 2021, Canadian Medical Association Journal.

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

J. Appendino, Ping-Yee B Au, A. Vein, 2023, Seizure: European Journal of Epilepsy.

Familial neonatal seizures caused by the Kv7.3 selectivity filter mutation T313I

J. Appendino, P. Au, S. Lamothe, 2020, Epilepsia open.

Position Statement on the Use of Medical Cannabis for the Treatment of Epilepsy in Canada

M. Keezer, O. Snead, J. Rho, 2019, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Removing barriers to accessing medical cannabis for paediatric patients

T. Oberlander, J. Appendino, M. Rieder, 2023, Paediatrics & Child Health.

Early recognition of characteristic conventional and amplitude-integrated EEG patterns of seizures in SCN2A and KCNQ3-related epilepsy in neonates

J. Appendino, Ping-Yee B Au, A. Vein, 2023, Seizure: European Journal of Epilepsy.

Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.

J. Appendino, Andy Cheuk-Him Ng, Mohamed Chahine, 2024, Journal of neurology.

Outcomes trajectories in children with epilepsy: hypotheses and methodology of a Canadian longitudinal observational study.

M. Boyle, D. Streiner, L. Carmant, 2014, Pediatric neurology.