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Malformations of Cortical Development

More information in Books or onNLM PubMed
Definition: Abnormalities in the development of the CEREBRAL CORTEX. These include malformations arising from abnormal neuronal CELL PROLIFERATION or APOPTOSIS; abnormal neuronal migration; and abnormal establishment of cortical organization via neurite extension, synaptogenesis, or neuronal maturation. As well as mutations effecting these developmental processes directly, there are a variety of inborn metabolic errors, such as PEROXISOMAL DISORDERS and mitochondrial and pyruvate metabolic disorders which effect them secondarily and also exhibit these malformations. They are common causes of EPILEPSY and developmental delay and are often a component of multiple congenital anomalies.     
Examples Lissencephaly; Macrocephaly; Microcephaly; Neuronal Migration Disorders; Tuberous Sclerosis
Other names Schizencephalies; Polymicrogyrias; Hemimegalencephalies; Dysplasias, Cortical; Dysplasias, Cerebral Cortical; Dysplasia, Cortical; Dysplasia, Cerebral Cortical; Development Malformations, Cortical; Development Malformation, Cortical; Cortical Dysplasias, Cerebral; Cortical Dysplasias; Cortical Development Malformations; Cortical Development Malformation; Cerebral Cortical Dysplasias; Polymicrogyria; Malformations of Cerebral Cortex Development; Schizencephaly; Hemimegalencephaly; Cortical Dysplasia, Cerebral; Cortical Dysplasia
 
SubstanceCAS Registry & nameCategoriesSource
Familial schizencephaly  0   *Malformations of Cortical Development.
Muller Barth Menger syndrome  0   *Abnormalities, Multiple *Hand Deformities, Congenital *Hypertrichosis *Seizures *Malformations of Cortical Development.
Focal cortical dysplasia of Taylor  0   *Brain Diseases *Malformations of Cortical Development.
Curatolo Cilio Pessagno syndrome  0   *Growth Disorders *Intellectual Disability *Malformations of Cortical Development *Agenesis of Corpus Callosum.
Perisylvian syndrome  0   *Abnormalities, Multiple *Intellectual Disability *Malformations of Cortical Development.
Non-lissencephalic cortical dysplasia  0   *Brain Diseases *Movement Disorders *Speech Disorders *Malformations of Cortical Development Developmental Disabilities.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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