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Gene

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HGNC

GENATLAS PHENOTYPE

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

Mechanism(s)

Gene mutation	Chromosome rearrangement	Effect	Comments
frameshift		truncated protein	stop codon leading to a lack of transmembrane and cytoplasmic domains