It is thought that normal neuron migration during the second trimester of intrauterine development, when primitive neuron precursors (germinal matrix) migrate from just beneath the ventricular ependyma to the peripheral hemispheres where they form the cortical grey matter. Genetic
There was once thought to be a genetic association with the EMX2 gene, although this theory has recently lost support. However it has been confirmed that mutations in the COL4A1 gene occur in some patients with schizencephaly. In utero infections
Schizencephaly may also be caused by environmental toxin exposure during pregnancy, infection during pregnancy (such as Cytomegalovirus), or a vascular insult. Often there are additional associated heterotopias (isolated islands of neurons) which indicate a failure of migration of the neurons to their final position in the brain caused by possible stroke. Diagnosis
Radiological methods like computed tomography (CT) and/or magnetic resonance imaging (MRI) - unilateral or bilateral clefting of the brain. Genetic testing for confirmation of mutations in the genes associated with susceptibility to the condition. Treatment
Treatment for individuals with schizencephaly generally consists of physical therapy (KG-ZNS with Vojta Methode), occupational therapy (with specific emphasis on neuro-developmental therapy techniques), treatment for seizures, and, in cases that are complicated by hydrocephalus, a shunt. Prognosis
The prognosis for individuals with schizencephaly varies depending on the size of the clefts and the degree of neurological deficit. Frequency
In some cases, the defect is linked to mutations of the EMX2, SIX3, and Collagen, type IV, alpha 1 genes.
Because having a sibling with schizencephaly has been statistically shown to increase risk of the disorder, it is possible that there is a heritable genetic component to the disease. References
9.^ Herrera Ortiz, A., & Ortiz Sandoval, H. (2021). Open Lip Schizencephaly: A Case Report. Revista Cuarzo, 26(2), 27-29.        https://doi.org/10.26752/cuarzo.v26.n2.510

External links
Schizencephaly at NINDS
OMIM entries on Familial Schizencephaly, SIX3-Related