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Medical condition
Schizencephaly
Axial CT scan showing schizencephaly in a 6-year-old child
Specialty
Medical genetics, neurology
Schizencephaly (from Greek skhizein 'to split', and enkephalos 'brain')[1][2] is a rare birth defect characterized by abnormal clefts lined with grey matter that form the ependyma of the cerebral ventricles to the pia mater. These clefts can occur bilaterally or unilaterally. Common clinical features of this malformation include epilepsy, motor deficits, and psychomotor retardation.[3]
^"schizo–". The New Oxford American Dictionary (2nd ed.).
^"encephalic". The New Oxford American Dictionary (2nd ed.).
^"Schizencephaly". Orphanet. Retrieved 4 November 2014.
and psychomotor retardation. Schizencephaly can be distinguished from porencephaly by the fact that in schizencephaly, the fluid-filled component is...
of genetic disorders of the cerebral cortex, including microcephaly, schizencephaly and types of lissencephaly. Chromosome abnormalities can also result...
mutations in the COL4A1 gene occur in some patients with porencephaly and schizencephaly. In humans, a novel mutation of the COL4A1 gene coding for collagen...
Hydrocephalus Neuronal migration disorders such as grey matter heterotopia Schizencephaly Some syndromes that frequently include ACC are:[citation needed] Acrocallosal...
development of the septum pellucidum, malformations of the pituitary gland, schizencephaly, cortical heterotopia, white matter hypoplasia, pachygyria, and holoprosencephaly...
include anencephaly, encephaloceles, hydranencephaly, iniencephaly, schizencephaly, and the most common form, spina bifida. Closed NTDs occur when the...
prevention for developmental brain disorders such as porencephaly. Schizencephaly Gul A, Gungorduk K, Yildirim G, Gedikbasi A, Ceylan Y (2009). "Prenatal...
perinatal brain injury, lead encephalopathy, hydrocephalus, prosencephaly, schizencephaly, and other diagnoses. It was originally the Hunterdon State School and...
neurocutaneous syndromes and epilepsy, neuronal substrates and epilepsy, schizencephaly, arhinencephalia, mental retardation, decussation of the bulbar pyramidal...
Hydranencephaly is sometimes misdiagnosed as bilaterally symmetric schizencephaly (a less destructive developmental process on the brain), severe hydrocephalus...
"A unitary model of schizophrenia: Bleuler's "fragmented phrene" as schizencephaly". Archives of General Psychiatry. 56 (9): 781–7. doi:10.1001/archpsyc...
EMX2 is negatively regulated by HOXA10. EMX2 has been associated with Schizencephaly, a disease where there are large parts of the brain hemispheres absent...
"A unitary model of schizophrenia: Bleuler's "fragmented phrene" as schizencephaly". Archives of General Psychiatry. 56 (9): 781–7. doi:10.1001/archpsyc...
(2010). "Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort". Am. J. Med. Genet. A. 152A (11): 2736–42. doi:10.1002/ajmg...
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