Jayne H. Antony

Westmead, NSW, Australia

Last Updated: 09/26/2026

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Found 19 publications

Eligibility for Thrombolysis for Pediatric Acute Ischemic Stroke.

Eligibility for Thrombolysis for Pediatric Acute Ischemic Stroke.

Journal: Stroke

Published: August 27, 2026

Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate.

Cerebrospinal fluid metabolomics in autistic regression reveals dysregulation of sphingolipids and decreased β-hydroxybutyrate.

Journal: EBioMedicine

Published: November 20, 2024

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Solving the Etiology of Developmental and Epileptic Encephalopathy with Spike-Wave Activation in Sleep (D/EE-SWAS).

Journal: Annals of neurology

Published: February 23, 2024

CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.

CSF neopterin, quinolinic acid and kynurenine/tryptophan ratio are biomarkers of active neuroinflammation.

Journal: EBioMedicine

Published: January 08, 2023

Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.

Decreased cerebrospinal fluid kynurenic acid in epileptic spasms: A biomarker of response to corticosteroids.

Journal: EBioMedicine

Published: June 24, 2022

Systematic review and meta-analysis of external ventricular drain placement accuracy and narrative review of guidance devices.

Systematic review and meta-analysis of external ventricular drain placement accuracy and narrative review of guidance devices.

Journal: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia

Published: September 23, 2021

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.

Journal: Human genetics

Published: August 06, 2021

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 19, 2021

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability.

Journal: Brain : a journal of neurology

Published: July 17, 2019

Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Yield of comparative genomic hybridization microarray in pediatric neurology practice.

Journal: Neurology. Genetics

Published: April 26, 2019

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Diagnostic yield of targeted massively parallel sequencing in children with epileptic encephalopathy.

Journal: Seizure

Published: August 25, 2017

Fifty years of paediatric neurology in Australasia.

Fifty years of paediatric neurology in Australasia.

Journal: Journal of paediatrics and child health

Published: March 24, 2016

Showing 1-12 of 19

Last Updated: 09/26/2026