Alexander Rotenberg

Postnatal gene restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD) reveals phenotype reversibility

This study shows that restoring the ALDH5A1 gene in a mouse model of SSADHD reverses hyperactivity and reduces GHB levels, improving survival.

FMR1 reduction alters cellular and circuit properties in human cortex

This study reduces FMR1 expression in human cortical slices to model Fragile X syndrome, revealing cell type-specific transcriptomic and electrophysiological changes not observed in mouse models.

A genetically defined injured C-fibre nociceptor associated with neuromasdrives chronic spontaneous neuropathic pain

The paper identifies a specific subtype of injured C-fibre nociceptors in neuromas that drive chronic spontaneous neuropathic pain in mice.

Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability

The paper generates zebrafish models of candidate human epilepsy genes and identifies five genes associated with seizure-like behavior and hyperexcitability.

Sex differences in seizure presentation in Dravet syndrome model mice, Scn1a+/-

This study identifies sex differences in mortality and seizure morbidity in Scn1a+/− mice, showing increased female mortality and male seizure severity, with hyperactivity possibly contributing to female mortality.

Mosaic and non-mosaic pcdh19 mutation leads to neuronal hyperexcitability in zebrafish

This study shows that both mosaic and non-mosaic pcdh19 mutations in zebrafish lead to neuronal hyperexcitability, challenging the idea that mosaicism alone causes PCDH19-related epilepsy.

Novel genetic tools to model functional enzyme restoration in succinic semialdehyde dehydrogenase deficiency (SSADHD)

The paper describes the development of a novel SSADHD mouse model to study the safety and feasibility of SSADH restoration therapies.