Kay Richards

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.

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.

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.