Cortical dysplasia - focal epilepsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: CDFE SYNDROME PITT-HOPKINS-LIKE SYNDROME 1, INCLUDED
PTHSL1, INCLUDED
Number of Symptoms 8
OrphanetNr: 163681
OMIM Id: 610042
ICD-10: Q04.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Childhood
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Epileptic syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
2
 (HPO:0002194) Delayed gross motor development 37 / 7739
3
 (HPO:0000752) Hyperactivity 140 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0007064) Progressive language deterioration 3 / 7739
6
 (HPO:0001250) Seizures 1245 / 7739
7
 (HPO:0000735) Impaired social interactions 20 / 7739
8
 (HPO:0002539) Cortical dysplasia 19 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Strauss et al. (2006) described a clinical and neuropathologic phenotype, which they called cortical dysplasia-focal epilepsy (CDFE) syndrome, in 9 children in the Old Order Amish of Lancaster, Pennsylvania. During infancy, all patients had mild gross motor delay ...
Molecular genetics OMIM Strauss et al. (2006) found a homozygous 1-bp deletion, 3709delG, in the CNTNAP2 gene (604569.0001) in 13 patients with CDFE from 10 sibships.

Zweier et al. (2009) identified homozygous or compound heterozygous mutations in the CNTNAP2 ...