Benign familial mesial temporal lobe epilepsy

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPSY, FAMILIAL MESIAL TEMPORAL LOBE
ETL3
FMTLE
Number of Symptoms 9
OrphanetNr: 163717
OMIM Id: 611630
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:0002321) Vertigo 58 / 7739
2
(HPO:0012005) Deja vu 1 / 7739
3
(HPO:0002349) Focal seizures without impairment of consciousness or awareness 5 / 7739
4
(HPO:0002384) Focal seizures with impairment of consciousness or awareness 17 / 7739
5
(OMIM) No hippocampal sclerosis 2 / 7739
6
(OMIM) Rare secondary generalization 1 / 7739
7
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
8
(OMIM) Deja vu feeling 1 / 7739
9
(OMIM) EEG is usually normal 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Hedera et al. (2007) reported a 4-generation Caucasian family in which 11 living individuals had features consistent with mesial temporal lobe epilepsy. Ten individuals had simple partial seizures with intense feelings of deja vu at times associated with ...