Loss of energy may causes excitotoxicity and neuronal hyperexcitability. Neuronal ceroid lipofuscinosis Accumulation of autofluorescent inclusions that resemble ceroid and lipofuscin in neurons. Childhood-onset forms are autosomal recessive. The adult-onset form may be autosomal dominant. Progressive cognitive and motor decline, visual failure, and seizures.
Seizures are myoclonic, generalized tonic-clonic, astatic, or atonic.
Many mutations have been found. Tuberous sclerosis Autosomal dominant inheritance. Infantile spasms, partial, myoclonic, and generalized tonic-clonic seizures. Mutations Hamartin at 9q. Tuberin at 16p.