Role of Interneurons in KCNT1-associated epilepsy

Project: Research project

Project Details

Description

Epileptic encephalopathies (EEs) are severe, infantile-onset epilepsies characterized by drug-resistant, pleomorphic seizures and early developmental arrest. Malignant migrating partial epilepsy of infancy (MMPEI) is a type of EE. Gain-of-function missense mutations in KCNT1, the gene encoding a sodium-activated potassium channel called Slack, are identified in ~40% of MMPEI patients. There are no approved treatments for MMPEI, but quinidine, a KCNT1 channel modulator, exerts anticonvulsant effects in MMPEI, whereas conventional anticonvulsants routinely fail. These findings suggest that targeting hyperactive KCNT1 channels has therapeutic value. While the anatomical location and neuronal identity in which KCNT1 is expressed is unknown, we hypothesize that MMPEI is an interneuron-driven disease.
StatusFinished
Effective start/end date1/1/1812/31/20

Funding

  • Ann & Robert H. Lurie Children's Hospital of Chicago (#925668-NU)
  • Child Neurology Education and Research Foundation (#925668-NU)

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