Human genes for cortical dysplasia-focal epilepsy syndrome
Cortical dysplasia-focal epilepsy syndrome [DOID:0090130]
A brain disease that is characterized by cortical dysplasia, focal epilepsy, macrocephaly, and diminished deep-tendon reflexes that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the contactin associated protein like 2 (CNTNAP2) gene on chromosome 7q35-q36.
Synonyms: cortical dysplasia-focal epilepsy syndrome, cortical dysplasiafocal epilepsy syndrome, cortical dysplasia-focal epilepsy disease, cortical dysplasia-focal epilepsy disorder, cortical dysplasia-focal epilepsy syndromes ...