Jennifer A. Kearney

This study creates a mouse model of SCN2A-related DEE and shows it exhibits neuronal hyperexcitability, seizure susceptibility, and responsiveness to phenytoin.

This study creates a new mouse model of AHC with the p.G947R ATP1A3 variant, showing motor dysfunction, seizures, and other neurological traits.

This study refines two Dravet syndrome modifier loci in mice and identifies candidate genes that may influence disease severity.

This paper generates a Kcnb1R306C mouse model to study the effects of a voltage-sensing mutation in KCNB1, finding altered neurological and neurobehavioral phenotypes.

This study examines strain-dependent effects on neurobehavioral and seizure phenotypes in Scn2aK1422E mice, finding differences in anxiety-like behavior and seizure response between B6 and F1D2 backgrounds.

This study evaluates how the estrous cycle affects seizure susceptibility in Scn2aK1422E mice and finds no significant association, but notes disrupted estrous cyclicity in untreated females.

This study identifies PRRT2 as a key hub in an epilepsy network disrupted by 16p11.2 duplication and shows its correction rescues multiple neuropsychiatric and seizure-related phenotypes in mice.

This paper investigates the effects of the SCN2A p.K1422E variant in mice, showing mixed functional and behavioral impacts on neurons and neurodevelopmental phenotypes.

This study identifies Gabra2 as a genetic modifier of Dravet syndrome in mice by showing that a deletion in Gabra2 worsens seizure and survival phenotypes in Scn1a+/- mice, which is reversed by repairing the deletion.

This study investigates altered excitability in the bed nucleus of the stria terminalis (BNST) and its projections to the parabrachial nucleus in a Dravet syndrome mouse model, linking these changes to potential comorbidities like respiratory dysfunction.

This paper identifies a KCNB1 pathogenic variant in mice that causes epilepsy and neurobehavioral abnormalities, mimicking human DEE features.

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.

The paper shows that targeting α2 subunit-containing GABAA receptors with AZD7325 reduces seizures in Dravet syndrome mice without sedation.