Kay L. Richards

Melbourne, VIC, Australia

Last Updated: 09/26/2026

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Found 24 publications

Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids.

Disrupted inhibitory interneuron development in SCN1A Dravet syndrome revealed by patient-derived subpallial organoids.

Journal: Epilepsia

Published: January 04, 2026

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy.

Journal: Epilepsia

Published: June 17, 2025

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models.

Journal: Annals of neurology

Published: May 11, 2025

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Mono and biallelic variants in HCN2 cause severe neurodevelopmental disorders.

Journal: medRxiv : the preprint server for health sciences

Published: April 02, 2024

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40.

Journal: Brain : a journal of neurology

Published: May 12, 2023

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.

Antisense oligonucleotide therapy reduces seizures and extends life span in an SCN2A gain-of-function epilepsy model.

Journal: The Journal of clinical investigation

Published: June 07, 2021

Glass-brain mapping provides an adjunct tool for structural analysis in mouse models of neurodevelopmental disease.

Glass-brain mapping provides an adjunct tool for structural analysis in mouse models of neurodevelopmental disease.

Journal: Neuroimage. Reports

Published: December 29, 2020

Antisense oligonucleotide therapy for KCNT1 encephalopathy.

Antisense oligonucleotide therapy for KCNT1 encephalopathy.

Journal: JCI insight

Published: December 01, 2020

Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum.

Atypical myelinogenesis and reduced axon caliber in the Scn1a variant model of Dravet syndrome: An electron microscopy pilot study of the developing and mature mouse corpus callosum.

Journal: Brain research

Published: May 05, 2020

In situ 3D visualization of biomineralization matrix proteins.

In situ 3D visualization of biomineralization matrix proteins.

Journal: Journal of structural biology

Published: December 02, 2019

Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain.

Using a Multiplex Nucleic Acid in situ Hybridization Technique to Determine HCN4 mRNA Expression in the Adult Rodent Brain.

Journal: Frontiers in molecular neuroscience

Published: May 28, 2019

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.

Selective NaV1.1 activation rescues Dravet syndrome mice from seizures and premature death.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: August 05, 2018

Showing 1-12 of 24

Last Updated: 09/26/2026