Epilepsy disorder-relevant models that are sequence validated
According to Epilepsy Foundation, epilepsy is the fourth most common neurological disorder and affects people of all ages. Through basic and clinical research, top genes that are mutated in Epilepsy disorder have been identified.
However, it is complex and challenging to select the right mutants to study due to many choices of strains and alleles. In addition, researchers sometimes have doubts that a strain obtained from another source has not lost the mutation or undergone genetic drift.
Our goal is to create a curated, reliable library of strains that are relevant to Epilepsy disorder. We have carefully selected:
- Strains and genes that are associated with Epilepsy disorder
- Genetic tests to validate the strains including PCR and sequencing
These sequence validated strains enable researchers to:
- Screen for drugs with activity against Epilepsy disorder
- Rapidly identify impactful drugs
- Test drug compounds on a whole organism
Zebrafish Model Options
| ZEP STXBP1 Knock-out | STXBP1 | stxbp1a | PTC - frameshift mutation leads to an early stop codon | Failure to hatch and hyperpigmentation |
| ZEP STXBP1 Morpholino | STXBP1 | stxbp1a | MO - translation blocking morpholino | Failure to hatch and hyperpigmentation |
C. elegans Model Options
| EPY STXBP1 Knock-out | STXBP1 - Syntaxin-Binding Protein 1 | unc-18 | Lof - entire coding sequence is removed | Uncoordination and Pumping rescued |
| EPY STXBP1 humanized | STXBP1 - Syntaxin-Binding Protein 1 | unc-18 | Humanization - human coding sequence integrated into worm genome | Uncoordinated - Pharyngeal pumping frequency reduced |
| EPY STXBP1 humanized C180Y variant | STXBP1(C180Y) | unc-18 | Point mutation - clinical variant introduced into humanized sequence | Morphology and movement defects |
| EPY STXBP1 humanized R406H variant | STXBP1(R406H) | unc-18 | Point mutation - clinical variant introduced into humanized sequence | Morphology and movement defects |
| EPY STXBP1 humanized R292H variant | STXBP1(R292H) | unc-18 | Point mutation - clinical variant introduced into humanized sequence | Morphology and movement defects |
| EPY CACNA1A Knock-out | CACNA1A - Calcium Channel Voltage-dependent, P/Q-type, alpha-1A subunit | unc-2 | Lof - point mutation resulting in early termination | Uncoordinated- Pharyngeal pumping frequency reduced |
| EPY FOXG1 Knockout | FOXG1 | fkh-2 | Lof - entire coding sequence is removed | synthetic lethal, with pes-1 |
Key Advantages of the Epilepsy Disorder Models
- Ready-to-screen format enables quicker identification of drug impacts
- Genetic mutations are validated with sequencing
- Recommended reference strains selected for their relevance to Epilepsy
- Consistent number of animals received
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