Overview of Interests
Dr. Ciria Hernandezs research is focused on understanding the basic mechanisms of epilepsy and how mutations, rare variants and polymorphisms alter the structure and function of recombinant and native gamma aminobutyric acid (GABA) type A (GABAAR) receptor channels to cause epilepsy, and ultimately, to provide a mechanistic foundation for development of novel therapeutic strategies to treat or cure epilepsy. At least four forms of monogenic human epilepsy have been linked to mutations in the α1, β3 and γ2 GABAA receptor subunits. Polymorphisms and novel rare variants associated with polygenic idiopathic generalized epilepsies (IGEs) have recently been found in GABAAR α4, α5, α6, β1, β2, γ1, γ3, δ, ε and π subunits. Her overarching hypothesis is that GABAAR subunit mutations, rare variants and polymorphisms promote neuronal hyperexcitability by disrupting GABAAR functional properties, subunit assembly to form GABAARs, and/or GABAAR surface trafficking, thus leading to impairment of the GABAergic synapse. Dr. Hernandez's long-term goal is to provide insights into GABAAR mutations linked to IGEs and developing more effective and new therapies for modeling epilepsy.
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