Amish, Mennonite, and Hutterite
Genetic Disorder Database

Cortical Dysplasia-Focal Epilepsy Syndrome

Disorder
OMIM #: #610042  (Click to access OMIM database)
Disorder: Cortical Dysplasia-Focal Epilepsy Syndrome 
Also known as: CDFE SYNDROME 
Clinical
Phenotype: cortical dysplasia, seizures, macrocephaly, diminished reflexes, developmental delay/mental retardation, hyperactivity, language regression, impulsive and aggressive behavior 
Seen In: Amish
Old Order Mennonite
Old Colony Mennonite
Unknown/Other Mennonite
Hutterite
Remarks:  
Mutations
1   Amish  
Gene: CNTNAP2
Base Change: c.3709delG
Amino Acid Change: Frame shift
Last updated: 2017-11-08 

References
Jackman C, Horn ND, Molleston JP, Sokol DK. (2009) Gene associated with seizures, autism, and hepatomegaly in an Amish girl. Pediatr Neurol Apr;40(4):310-3.
PubMed ID: 19302947 
Strauss KA, Puffenberger EG, Huentelman MJ, Gottlieb S, Dobrin SE, Parod JM, Stephan DA, and Morton DH. (2006) Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. N Engl J Med 354(13): 1370-1377.
PubMed ID: 16571880 

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