Steven Petrou

Brain-wide circuitry underlying altered auditory habituation in zebrafish models of autism.

The paper investigates auditory habituation differences in zebrafish autism models, finding unique and shared brain-wide circuit changes across genetic lines.

SYNGAP1 haploinsufficiency disrupts early neurodevelopment and accelerates intrinsic neuronal maturation in human patient-derived models

This study investigates SYNGAP1 haploinsufficiency in human patient-derived models, showing disrupted early neurodevelopment and accelerated neuronal maturation.

Knowledge Inclusive Machine Learning for Disease Gene Prioritisation

This paper introduces KIML, a machine learning framework that integrates experimental data with biological knowledge to improve disease gene prioritisation, showing better performance than existing methods.

Electrophysiological signatures of a developmental delay in a stem cell model of KCNQ2 developmental and epileptic encephalopathy

This study investigates the developmental impact of KCNQ2 loss-of-function variants in patient iPSC-derived neurons, showing reduced M-currents and disrupted oscillatory activity linked to developmental delay and seizures.

PAC: A novel translational concordance framework identifies preclinical seizure models with highest predictive validity for clinical focal onset seizures

The paper introduces a framework to evaluate preclinical seizure models' predictive validity for clinical focal onset seizures and identifies three models with high predictive validity.

Emerging neurodevelopmental mechanisms in patient induced pluripotent stem cells-derived spheroids modelling SCN1A Dravet Syndrome

This study uses patient-derived iPSC spheroids to model SCN1A Dravet Syndrome, revealing dysregulated developmental processes and predicting drug response to fenfluramine.

Biophysical characterization and modeling of SCN1A gain-of-function predicts interneuron hyperexcitability and a predisposition to network instability through homeostatic plasticity

This study characterizes SCN1A gain-of-function variants and models their impact on interneuron hyperexcitability and network instability through homeostatic plasticity in early-onset epileptic encephalopathies.

Distinctive in vitro phenotypes in iPSC-derived neurons from patients with gain- and loss-of-function SCN2A developmental and epileptic encephalopathy

This study compares iPSC-derived neurons from patients with gain- and loss-of-function SCN2A variants, finding distinct electrophysiological and transcriptomic changes associated with different disease presentations.

Antisense oligonucleotide therapy for KCNT1 encephalopathy

This study demonstrates that antisense oligonucleotide therapy reduces seizures and improves survival in a KCNT1 mouse model of encephalopathy.

Antisense oligonucleotide therapy for SCN2A gain-of-function epilepsy

This study shows that reducing SCN2A function with an antisense oligonucleotide improves survival and behavior in a mouse model of early seizure onset DEE.

GABA-mediated tonic inhibition differentially modulates gain in functional subtypes of cortical interneurons

This study shows that GABA-mediated tonic inhibition differentially modulates gain in cortical interneurons based on their electrophysiological properties.

Dysmorphic neuron density underlies intrinsic epileptogenicity of the centre of cortical tubers

This study shows that resecting only the center of cortical tubers in TSC patients eliminates seizures without functional deficits, as the center has higher dysmorphic neuron density.

Abnormal cell sorting underlies the unique X-linked inheritance of PCDH19 Epilepsy

The paper shows that PCDH19 mutations in females cause abnormal cell sorting in the developing cortex, leading to epilepsy, while males are unaffected due to normal sorting.

Cortical Tonic Inhibition Regulates the Expression of Spike-and-Wave Discharges Associated with Absence Epilepsy.

This study shows that cortical tonic inhibition regulates spike-and-wave discharges in absence epilepsy by demonstrating that its blockade induces seizures and its rescue suppresses them in a mouse model.

Tonic Inhibition is Abolished in GABAA Receptor γ2R43Q Knock-in Mice with Absence Epilepsy and Febrile Seizures.

This study shows that the γ2R43Q GABAA receptor mutation abolishes tonic inhibition in mice, leading to absence epilepsy and febrile seizures.