N=You; neurodevelopmental

7 important questions on N=You; neurodevelopmental

How can you translate behaviour form models?

With an EEG, synaptic functioning.
An E/I balance is needed for balanced information transport.

What is very important to take into consideration in neurodevelopmental disorders?

  1. Cause
  2. Associate it in place, time and function. Brain and neurodevelopment
  3. Temporal relations => is it better or worse
  4. Think about treatment -> different types => bring personalized medicine to the patient



Same mutation but different phenotype =>
- Importance of time! => development is a temporal effect
- Diet
- Environment
- Physical activity
- Other genetic factors that interfere


Understand the relation between genetics --> behaviour.

What does low vs high E/I balance do?

In general
Much inhibition = developmental delay
Less exhibitory = epilepsy
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What are the symptoms of STXBP1?

  • Low E/I balance in the beta range (concentration)
  • Lower frequency (delta) activity

What are the treatment options for STXBP1 (intellectual disability)? On different levels.

  • Gene level: gene therapy => targets the reduced protein levels
  • Target the synaptic deficits with small molecules.
  • Target circuits
  • Target system deficits => increases I/E balance => drug tested = Bumetanide
  • Symptoms therapy = diet

What is the rationale behind bumetanide?

It increases the E/I balance => less inhibition.
Input of chloride
On group level it works.

New case. Boy with developmental problems. What to do?

Investigate if Bumetanide improves IQ of the boy.

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