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, E22 region |
| Base Change: | del.G, at nucleotide 3709 |
| Amino Acid Change: | Frame shift |
| Last updated: | 2009-03-15 |
| References |
|---|
| 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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