# Role for ion conducting proteins in cortical malformation diseases

> **NIH NIH K99** · BOSTON CHILDREN'S HOSPITAL · 2021 · $92,102

## Abstract

K99 Admin Supplement Project Summary
The idea that ion channels can disrupt cortex formation is a new area of study, particularly
when exploring the mechanisms activated at a cellular level. Since dividing progenitor cells
and newborn neurons in the developing cerebral cortex rely on ions for controlling cellular
processes, I will test the new hypothesis that disrupted activity of specific ion fluxes is critical
to cortex assembly. Proof of the existence of developmental channelopathies in the brain has
remained elusive due to the heterogenous nature of cortical malformations and the fact that
they are often are under extreme negative pressure evolutionarily. Given that I am describing
and categorizing brain disorders that improve our understanding of disease mechanisms and
the treatment of conditions related to malformation of cortical development (MCD), the
significance of this work to human
research will immediately improve
health is immediate as the results generated by this
genetic testing for diagnosed disorders. I will complete this
research with a combination of both proven and innovative strategies, including:
Aim 1) Completed (K99 Aim 1, year 1)
Aim 2) Characterizing a novel mouse model for a developmental channelopathy;
Aim 3) Development of a novel physiological assay in developing human cerebral organoids.

## Key facts

- **NIH application ID:** 10435714
- **Project number:** 3K99NS112604-02S1
- **Recipient organization:** BOSTON CHILDREN'S HOSPITAL
- **Principal Investigator:** Richard S Smith
- **Activity code:** K99 (R01, R21, SBIR, etc.)
- **Funding institute:** NIH
- **Fiscal year:** 2021
- **Award amount:** $92,102
- **Award type:** 3
- **Project period:** 2021-06-22 → 2022-05-31

## Primary source

NIH RePORTER: https://reporter.nih.gov/project-details/10435714

## Citation

> US National Institutes of Health, RePORTER application 10435714, Role for ion conducting proteins in cortical malformation diseases (3K99NS112604-02S1). Retrieved via AI Analytics 2026-05-23 from https://api.ai-analytics.org/grant/nih/10435714. Licensed CC0.

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