Cortical dysplasia [92 genes]

Cortical dysplasia is the focal presence or absence of dysplastic areas of the cerebral cortex. Histologically, cortical dysplasias contain large, abnormal neurons in all neuronal layers except the first, with a loss of cortical lamination. Abnormal cells, similar to glia, are present deep in the affected cortical region and in the underlying demyelinated white matter. Cortical dysplasia is a well-known cause of intractable epilepsy, but sometimes, in focal forms limited to specific areas, it is not identified on the initial MRI unless there is a high degree of suspicion in a specific location.

Unknown

The benefits derived from a genetic diagnosis in this context are especially aimed at closing the diagnosis and family genetic counseling.

Service indicated, preferably, when generalized cortical dysplasia is evident and/or associated with additional cerebral or non-cerebral clinical signs. In isolated focal forms of cortical dysplasia, somatic online study should be considered if it is considered of clinical interest for the patient.