2. Biology Dictionary
  3. Amish infantile epilepsy syndrome

Amish infantile epilepsy syndrome

Definition:

Amish infantile epilepsy syndrome is an autosomal recessive, infantile-onset symptomatic epilepsy associated with developmental stagnation and blindness. A mutation in SIAT9, which is predicted to result in the premature termination of the GM3 synthase enzyme, has been identified.

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