Marie Phillips

Impaired Color Recognition in HCN1 Epilepsy: A Single Case Report

Chaseley E Mckenzie, Chen-Jui Ho, Ian C Forster, Ming S Soh, A Marie Phillips, Ying-Chao Chang, Ingrid E Scheffer, Christopher A Reid, Meng-Han Tsai

Journal article  |  2022  |  FRONTIERS IN NEUROLOGY

Variants in HCN1 are associated with a range of epilepsy syndromes including developmental and epileptic encephalopathies. Here we..

Loss-of-function variants in K(v)11.1 cardiac channels as a biomarker for SUDEP

Ming S Soh, Richard D Bagnall, Mark F Bennett, Lauren E Bleakley, Erlina S Mohamed Syazwan, A Marie Phillips, Mathew DF Chiam, Chaseley E McKenzie, Michael Hildebrand, Douglas Crompton, Melanie Bahlo, Christopher Semsarian, Ingrid E Scheffer, Samuel F Berkovic, Christopher A Reid

Journal article  |  2021  |  ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY

OBJECTIVE: To compare the frequency and impact on the channel function of KCNH2 variants in SUDEP patients with epilepsy controls ..

The hyperpolarization-activated cyclic nucleotide-gated 4 channel as a potential anti-seizure drug target

Qays Kharouf, A Marie Phillips, Lauren E Bleakley, Emma Morrisroe, Julia Oyrer, Linghan Jia, Andreas Ludwig, Liang Jin, Joseph A Nicolazzo, Elisabetta Cerbai, M Novella Romanelli, Steven Petrou, Christopher A Reid

Journal article  |  2020  |  British Journal of Pharmacology

Background and Purpose Hyperpolarization‐activated cyclic nucleotide‐gated (HCN) channels are encoded by four genes (HCN1–4) with ..

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

Julia Oyrer, Lauren E Bleakley, Kay L Richards, Snezana Maljevic, A Marie Phillips, Steven Petrou, Cameron J Nowell, Christopher A Reid

Journal article  |  2019  |  FRONTIERS IN MOLECULAR NEUROSCIENCE

Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels carry a non-selective cationic conductance, I h , which is impo..

Development of a rapid functional assay that predicts GLUT1 disease severity

Sasha M Zaman, Saul A Mullen, Slave Petrovski, Snezana Maljevic, Elena Gazina, A Marie Phillips, Gabriel Davis Jones, Michael S Hildebrand, John Damiano, Stephane Auvin, Holger Lerche, Yvonne G Weber, Samuel F Berkovic, Ingrid E Scheffer, Christopher A Reid, Steven Petrou

Journal article  |  2018  |  NEUROLOGY-GENETICS

OBJECTIVE: To examine the genotype to phenotype connection in glucose transporter type 1 (GLUT1) deficiency and whether a simple f..

Gain-of-function HCN2 variants in genetic epilepsy

Melody Li, Snezana Maljevic, A Marie Phillips, Slave Petrovski, Michael S Hildebrand, Rosemary Burgess, Therese Mount, Federico Zara, Pasquale Striano, Julian Schubert, Holger Thiele, Peter Nuernberg, Michael Wong, Judith L Weisenberg, Liu Lin Thio, Holger Lerche, Ingrid E Scheffer, Samuel F Berkovic, Steven Petrou, Christopher A Reid

Journal article  |  2018  |  HUMAN MUTATION

Genetic generalized epilepsy (GGE) is a common epilepsy syndrome that encompasses seizure disorders characterized by spike-and-wav..

Functional variants in HCN4 and CACNA1H may contribute to genetic generalized epilepsy.

Felicitas Becker, Christopher A Reid, Kerstin Hallmann, Han-Shen Tae, A Marie Phillips, Georgeta Teodorescu, Yvonne G Weber, Ailing Kleefuss-Lie, Christian Elger, Edward Perez-Reyes, Steven Petrou, Wolfram S Kunz, Holger Lerche, Snezana Maljevic

Journal article  |  2017  |  Epilepsia Open

OBJECTIVE: Genetic generalized epilepsy (GGE) encompasses seizure disorders characterized by spike-and-wave discharges (SWD) origi..

Gabapentin Modulates HCN4 Channel Voltage-Dependence

Han-Shen Tae, Kelly M Smith, A Marie Phillips, Kieran A Boyle, Melody Li, Ian C Forster, Robert J Hatch, Robert Richardson, David I Hughes, Brett A Graham, Steven Petrou, Christopher A Reid

Journal article  |  2017  |  FRONTIERS IN PHARMACOLOGY

Gabapentin (GBP) is widely used to treat epilepsy and neuropathic pain. There is evidence that GBP can act on hyperpolarization-ac..

Loss of synaptic Zn2 transporter function increases risk of febrile seizures

Michael S Hildebrand, A Marie Phillips, Saul A Mullen, Paul A Adlard, Katia Hardies, John A Damiano, Verena Wimmer, Susannah T Bellows, Jacinta M McMahon, Rosemary Burgess, Rik Hendrickx, Sarah Weckhuysen, Arvid Suls, Peter De Jonghe, Ingrid E Scheffer, Steven Petrou, Samuel F Berkovic, Christopher A Reid

Journal article  |  2015  |  SCIENTIFIC REPORTS

Febrile seizures (FS) are the most common seizure syndrome and are potentially a prelude to more severe epilepsy. Although zinc (Z..

Spike-and-wave discharge mediated reduction in hippocampal HCN1 channel function associates with learning deficits in a genetic mouse model of epilepsy

A Marie Phillips, Taehwan Kim, Ernesto Vargas, Steven Petrou, Christopher A Reid

Journal article  |  2014  |  NEUROBIOLOGY OF DISEASE

The GABAAγ2(R43Q) mouse is an established model of absence epilepsy displaying spontaneous spike-and-wave discharges (SWD) and ass..