Barro-Soria Lab

University of Miami School of Medicine

INTERNAL MEDICINE/MEDICINE

Coral Gables · United States

NIH-funded
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NIH R01 · 2024

Molecular Mechanisms of Epilepsy-Causing Mutations in IKM channels: anti-epileptic effect of Lipophilic compounds.

Abnormal neuronal activity in the brain leads to epileptic seizures that, when repeated or prolonged, can cause neuronal damage resulting in delayed psychomotor development and intellectual disability. Most genetic variants associated with epilepsy are in genes encoding ion channels, including potassium channels that regulate neuronal excitability such as IKM channels. Inherited mutations in the IKM channel cause a wide spectrum of early-onset epileptic disorders. The long-term goal of this research program is to understand the mechanisms by which the wt IKM channel work, how epilepsy-causing mutations lead to dysfunction of IKM channels and to design drugs that correct IKM dysfunction. The…

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