Jeffrey L. Noebels

Convergent Inhibitory Cortical Circuit Disruption Drives Genetically Distinct Absence Seizures

This study identifies a common inhibitory cortical circuit disruption in two genetically distinct absence epilepsy mouse models that leads to seizure onset.

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

EGR3 Deletion Rescues Developmental and Epileptic Encephalopathy in Kcna1-null Mice

This study shows that deleting EGR3 in Kcna1-null mice rescues seizures, behavior, and brain pathology, linking early seizures to long-term transcriptional changes.

Persistent Na+ current couples seizure with spreading depolarization in Scn8a gain of function mice

This study shows that gain-of-function Scn8a mutations increase seizure and spreading depolarization in mice, and that persistent Na+ current contributes to this phenotype.

Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy

The paper investigates the molecular and cellular mechanisms of KCNQ2 encephalopathy through structural analysis, functional assays, and an animal model, revealing multiple pathogenic effects of the G256W variant.

A hyperthermic seizure unleashes a surge of spreading depolarizations in Scn1a deficient mice

This study shows that hyperthermic seizures in Scn1a deficient mice trigger increased spreading depolarizations, which may contribute to epileptic encephalopathy.

WWOX P47T loss-of-function mutation induces epilepsy, progressive neuroinflammation, and cerebellar degeneration in mice phenocopying human SCAR12

This paper describes a mouse model of WWOX P47T mutation that mimics human SCAR12, showing epilepsy, neuroinflammation, and cerebellar degeneration.

Emx1-Cre is expressed in peripheral autonomic ganglia that regulate central cardiorespiratory functions

This study shows that Emx1-Cre is expressed in peripheral autonomic ganglia involved in cardiorespiratory regulation, which may affect interpretations of transgenic mouse phenotypes.

Kcnq2/Kv7.2 controls the threshold and bihemispheric symmetry of cortical spreading depolarization

This study identifies Kcnq2/Kv7.2 as a gene modulating spreading depolarization threshold and bilateral symmetry, with implications for epilepsy and migraine.

Adrenergic activation of cardiac preganglionic neurons in nucleus ambiguous relies on persistent sodium current

This study shows adrenergic agonists enhance intrinsic excitability of cardiac preganglionic neurons in the nucleus ambiguus via persistent sodium current.

Asynchronous suppression of visual cortex during absence seizures

The paper examines neuronal activity in the visual cortex of stargazer mice during absence seizures, finding asynchronous suppression of most neurons.