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Polymicrogyria has been related to mutations of several genes including SRPX2, PAX6, TBR2, KIAA1279, RAB3GAP1, COL18A1 and copy-number variations. The spectrum of clinical manifestations associated with polymicrogyria ranges from normal individuals with only selective impairment of cognitive functions. Generalized polymicrogyria is often accompanied by microcephaly and severe-profound cognitive and motor delay, as well as epilepsy. Both polymicrogyria and schizencephaly have been reported in the same family and both may occur with prenatal cytomegalovirus infection. Clinical findings include focal seizures present in most patients usually beginning before age 3 years if bilateral clefts are present. Epilepsy, motor impairment, and disorders of higher cortical functions are the most common clinical manifestation of polymicrogyria. Specific electroclinical features of Aicardi syndrome include early onset infantile spasms and partial seizures. Electroencephalography in polymicrogyria and schizencephaly shows variable patterns of abnormality. Selected patients with schizencephaly have been treated with surgery for epilepsy.
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