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References OMIM Gene GeneReviews HGMD HGNC
last update : 16/06/2006
Symbol CDFE
Location 7q35
Name cortical dysplasia-focal epilepsy syndrome
Corresponding gene CNTNAP2
Main clinical features
  • complex partial seizures with onset in early childhhood after a period of normal development, mental retardation, with behavioral regression, macrocephaly, attention-deficit hyperactivity, diminished or absent tendon reflexes, . on MRI elevated T2 signal in the right anterior medial temporal lobe, as well as thickening of the lateral temporal gray matter with blurring of the junction between the gray matter and white matter
  • Genetic determination autosomal recessive
    Function/system disorder neurology
    Type disease
    Gene mutationChromosome rearrangementEffectComments
    frameshift   truncated protein stop codon leading to a lack of transmembrane and cytoplasmic domains