Epilepsy due to autosomal recessive genetic syndromes with widespread or progressive effects (Q86437): Difference between revisions

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Latest revision as of 11:50, 15 August 2026

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.

Language	Label	Description	Also known as
default for all languages	ID_1122743842
English	Epilepsy due to autosomal recessive genetic syndromes with widespread or progressive effects	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.