EPILEPSY, FAMILIAL TEMPORAL LOBE, 2

General Information (adopted from Orphanet):

Synonyms, Signs: FTLE
ETL2
Number of Symptoms 8
OrphanetNr:
OMIM Id: 608096
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: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0002373) Febrile seizures 37 / 7739
2
(HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
3
(HPO:0002069) Generalized tonic-clonic seizures 96 / 7739
4
(HPO:0002349) Focal seizures without impairment of consciousness or awareness 5 / 7739
5
(OMIM) Status epilepticus rarely occurs 1 / 7739
6
(OMIM) EEG and symptomatology suggest mesial temporal origin 1 / 7739
7
(OMIM) Interictal EEG may be normal or abnormal 1 / 7739
8
(OMIM) No hippocampal sclerosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Familial temporal lobe epilepsy (FTLE, ETL) is a genetically heterogeneous syndrome characterized by relatively benign simple or complex partial seizures with intense psychic or autonomic auras (Berkovic et al., 1996).

For a discussion of genetic heterogeneity ...

Clinical Description OMIM Berkovic et al. (1996) reported 38 individuals from 13 unrelated families with familial temporal lobe epilepsy. Of 22 monozygotic twin pairs in which 1 or both twins had partial epilepsy, 5 pairs were concordant and all had cryptogenic ...