Epilepsy due to autosomal recessive genetic syndromes with widespread or progressive effects (Q86437)

Epilepsy due to a wide variety of clinical conditions having in common an autosomal recessive genetic defect. Mostly represented are inherited metabolic disorders. Phenotype varies with the age of the patient. Seizure semiology and electroencephalographic features vary and are not diagnostic. Excludes genetic syndromes primarily expressed as epilepsy.