Rubinstein lab

We currently focus on three forms of developmental epileptic encephalopathy (DEE), Dravet Syndrome, GRIN2D-related epileptic encephalopathy, and CHD2-related epileptic encephalopathy. 

 

• Dravet syndrome is intractable childhood-onset epilepsy caused by loss of function mutations in the SCN1A gene. Dravet syndrome symptoms begin during the first year of life, with seizures associated with fever, progressing to refractory and frequent seizures, and a high risk of premature death. 

  • Understand the neuronal basis of Dravet ​

  • Identify early diagnostic tools 

  • Develop gene therapy treatment 

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• Genetic mutations in GRIN2D, which encodes the GluN2D NMDAR subunit, are associated with developmental epileptic encephalopathy (DEE), presented with infantile-onset intractable epilepsy, global developmental delay, and motor problems. See more here 

  • Understand the neuronal basis of GRIN2D DEE 

  • Develop novel treatment options 

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• Mutations in the chromodomain helicase DNA binding 2, CHD2, are associated with severe childhood-onset epilepsy, global developmental delay, intellectual disability, and autism-like features.​

  • Develop a novel mouse model for CHD2 ​

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