Epilepsy Disorder Models

Epilepsy disorder-relevant models that are sequence validated

epilepsy-panel_showcase

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

STRAIN
HUMAN GENE
ZEBRAFISH GENE
TYPE OF TRANSGENIC
WORM PHENOTYPE
ZEP STXBP1 Knock-outSTXBP1stxbp1aPTC - frameshift mutation leads to an early stop codonFailure to hatch and hyperpigmentation
ZEP STXBP1 MorpholinoSTXBP1stxbp1aMO - translation blocking morpholinoFailure to hatch and hyperpigmentation

C. elegans Model Options

STRAIN
HUMAN GENE
WORM GENE HOMOLOGUE
TYPE OF TRANSGENIC
WORM PHENOTYPE
EPY STXBP1 Knock-outSTXBP1 - Syntaxin-Binding Protein 1unc-18Lof - entire coding sequence is removedUncoordination and Pumping rescued
EPY STXBP1 humanizedSTXBP1 - Syntaxin-Binding Protein 1unc-18Humanization - human coding sequence integrated into worm genomeUncoordinated - Pharyngeal pumping frequency reduced
EPY STXBP1 humanized
C180Y variant
STXBP1(C180Y)unc-18Point mutation - clinical variant introduced into humanized sequenceMorphology and movement defects
EPY STXBP1 humanized
R406H variant
STXBP1(R406H)unc-18Point mutation - clinical variant introduced into humanized sequenceMorphology and movement defects
EPY STXBP1 humanized
R292H variant
STXBP1(R292H)unc-18Point mutation - clinical variant introduced into humanized sequenceMorphology and movement defects
EPY CACNA1A Knock-outCACNA1A - Calcium Channel Voltage-dependent, P/Q-type, alpha-1A subunitunc-2Lof - point mutation resulting in early terminationUncoordinated- Pharyngeal pumping frequency reduced
EPY FOXG1 KnockoutFOXG1fkh-2Lof - entire coding sequence is removedsynthetic 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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