SEIZR

SEIZR assesses seizure sensitivity and validates candidate epilepsy genes by analyzing high-throughput behavioral assay data from zebrafish.

Key Features:

• High-throughput seizure-sensitivity assay: Processes and analyzes behavioral assay data from zebrafish to phenotype seizure sensitivity.
• Gene perturbation analysis: Supports assessment of gene disruption or reduced expression effects on seizure-related behaviors, including prickle 1 disruption and ZFHX3 knockdown.
• Pharmacological response assessment: Analyzes behavioral responses to the convulsant drug pentylenetetrazol (PTZ) to detect hyperactive seizure-like phenotypes.
• Integration with exome sequencing candidates: Enables rapid evaluation of candidate genes identified by exome sequencing and projects such as the NIH Undiagnosed Diseases Project (UDP).
• Large-scale behavioral dataset analysis: Provides a software framework for efficient processing and analysis of large behavioral datasets.
• Functional validation for translational genomics: Facilitates functional validation of genetic variants implicated in epilepsy to inform neurological disease research.

Scientific Applications:

• Validation of candidate epilepsy genes: Validates candidate genes from exome sequencing/UDP using zebrafish seizure-sensitivity assays.
• Investigation of gene effects on seizure susceptibility: Determines how gene disruption or reduced expression (e.g., prickle 1, ZFHX3) alters seizure-related behavior.
• Pharmacogenetic modeling of seizures: Models seizure phenotypes by assessing behavioral responses to PTZ in zebrafish.
• Translational functional genomics: Translates genomic variant findings into functional evidence relevant to clinical research on epilepsy and other neurological disorders.

Methodology:

Analysis of high-throughput zebrafish seizure-sensitivity behavioral assay data using a software framework for efficient dataset processing, applied to gene perturbation experiments (gene disruption or reduced expression) and assessment of behavioral responses to pentylenetetrazol (PTZ) for candidate genes identified by exome sequencing/NIH UDP.