Familial mesial temporal lobe epilepsy with febrile seizures

General Information (adopted from Orphanet):

Synonyms, Signs: ETL5
Number of Symptoms 4
OrphanetNr: 165805
OMIM Id: 614417
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Familial partial epilepsy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures 1245 / 7739
2
(OMIM) Structural changes in the temporal lobe 1 / 7739
3
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
4
(OMIM) Seizures, temporal lobe 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Salzmann et al. (2012) reported 3 unrelated Caucasian patients, aged 39, 42, and 49 years, with temporal lobe epilepsy. Two had onset at ages 23 and 5 years, respectively; information about age at onset was not available for ...
Molecular genetics OMIM In 3 unrelated patients with temporal lobe epilepsy, Salzmann et al. (2012) identified a heterozygous mutation in the CPA6 gene (G267R; 609562.0002). The patients were ascertained from a larger cohort of 195 patients with partial epilepsy and 145 ...