Patients with subcortical band heterotopia (another disorder associated with pachygyria) typically have milder symptoms and their cognitive function is closely linked to the thickness of the subcortical band and the degree of pachygyria present. (wikipedia.org)
Should neurons follow an abnormal migration during development possible cortical malformations include classical lissencephaly (as stated above) and subcortical band heterotopia with an agyria-pachygyria band spectrum. (wikipedia.org)
Below, the mutations of LIS1 or DCX genes are discussed as they are most commonly linked to neuronal migration disorders including lissencephaly-pachygyria and subcortical band heterotopia. (wikipedia.org)
A spectrum of malformations of cortical development caused by insufficient neuronal migration that subsumes the terms agyria, pachygyria and subcortical band heterotopia. (nih.gov)
Neuronal migration3
Pachygyria is caused by a breakdown in the fetal neuronal migration process due to genetic or possibly environmental influences. (wikipedia.org)
One of the best known and most common types of neuronal migration disorders is lissencephaly, a diffuse cortical malformation relating directly to agyria and pachygyria. (wikipedia.org)
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. (bvsalud.org)
Disorders1
and DCX or XLIS, the gene for doublecortin, have been identified as the most common causes of disorders in this spectrum. (bvsalud.org)
Lissencephaly2
Lissencephaly (to which pachygyria is most closely linked) is associated with severe mental retardation, epilepsy, and motor disability. (wikipedia.org)
Two characteristics of lissencephaly include its absence of convolutions (agyria) and decreased presence of convolutions (pachygyria). (wikipedia.org)
Gyri1
Pachygyria (from the Greek pachy meaning "thick" or "fat" gyri) is a congenital malformation of the cerebral hemisphere. (wikipedia.org)
Malformations1
Disorders comprising a spectrum of brain malformations representing the paradigm of a diffuse neuronal migration disorder. (bvsalud.org)
Absence2
Two characteristics of lissencephaly include its absence of convolutions (agyria) and decreased presence of convolutions (pachygyria). (wikipedia.org)
In people with ILS, the cells of the cerebral cortex are disorganized, and the brain surface is abnormally smooth with an absence (agyria) or reduction (pachygyria) of folds and grooves. (medlineplus.gov)
Epilepsy2
Lissencephaly (to which pachygyria is most closely linked) is associated with severe mental retardation, epilepsy, and motor disability. (wikipedia.org)
CLCN4-related neurodevelopmental disorder (CLCN4-NDD), an X-linked disorder, is characterized in the 36 males reported to date by developmental delay or intellectual disability, behavioral/mental health issues (e.g., autism spectrum disorder, anxiety, hyperactivity, and bipolar disorder), epilepsy, and gastrointestinal dysfunction. (beds.ac.uk)