Symptoms


  (J. Klepper, Aschaffenburg; updated 01.2007)

cardinal symptoms:

Early-onset epilepsy 
 

• in infants: drop attacks, cyanotic spells, abnormal eye movements
 
• in childhood: generalized slowing, “drunken” appearance, myoclonic seizures, grand mal seizures
 
• in adults: variable seizure manifestations, few data available

 
Developmental delay:

• mental delay
• motor delay

A complex movement disorder with a varying degree of

• hypotonia
• dystonia
• ataxia
• spasticity

Additional symptoms:

• acquired microcephalus (small head circumference)