Exploring Chromosomal Instability and Cellular Phenotypes in Ring Chromosome 14 Syndrome

Awardee: Matthew Tegtmeyer

Institution: Purdue University

Grant Amount: $60,840.00

Funding Period: February 1, 2025 - January 31, 2026


Summary:

We will explore whether various culture maintenance conditions can promote the stability of ring 14 in patient reprogrammed iPSCs.

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Molecular and Functional Mechanisms Underlying Cortical Activity in CACNA1A Epilepsy

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Characterization of seizures in a new mouse model of KCNT1 G288S