PUBLICATION

Seizure-like behavior and hyperactivity in napb knockout zebrafish as a model for autism and epilepsy

Authors
Shin, K.C., Hasan, W., Ali, G., Abdelrahman, D., Abuarja, T., Stanton, L.W., Da'as, S.I., Park, Y.
ID
ZDB-PUB-250430-12
Date
2025
Source
Scientific Reports   15: 1457914579 (Journal)
Registered Authors
Abdelrahman, Dou, Abuarja, Tala, Da'as, Sahar, Hasan, Waseem
Keywords
NAPB, Autism, Microelectrode array (MEA), SNARE, Zebrafish
MeSH Terms
  • Zebrafish/genetics
  • Gene Knockout Techniques
  • Disease Models, Animal
  • Animals
  • Epilepsy*/genetics
  • Epilepsy*/physiopathology
  • Humans
  • Zebrafish Proteins*/genetics
  • CRISPR-Cas Systems
  • Behavior, Animal
  • Autistic Disorder*/genetics
  • Autistic Disorder*/physiopathology
  • Seizures*/genetics
  • Seizures*/physiopathology
PubMed
40301471 Full text @ Sci. Rep.
Abstract
We identified N-ethylmaleimide-sensitive factor attachment protein beta (NAPB) as a potential risk gene for autism and epilepsy. Notably, Qatari monozygotic triplets with loss of function mutations in NAPB exhibit early onset epileptic encephalopathy and varying degrees of autism. In this study, we generated NAPB zebrafish model using CRISPR-Cas9-sgRNAs technology for gene editing of the two orthologs napba and napbb. We observed that napb crispants (CR) show shorter motor neuron axons length together with altered locomotion behavior, including significant increases in larvae total distance traveled, swimming velocity, and rotation frequency, indicating that these behavioral changes effectively mimic the human epileptic phenotype. We applied microelectrode array (MEA) technology to monitor neural activity and hyperactivity in the zebrafish model. The napb CR shows hyperexcitability in the brain region. By combining behavioral tests with electrophysiological MEA assays, the established NAPB zebrafish model can be employed to study the pathophysiological mechanisms of ASD and epilepsy to screen potential therapeutic drugs.
Genes / Markers
Figures
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Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Antibodies
Orthology
Engineered Foreign Genes
Mapping