EPILEPSY, FAMILIAL TEMPORAL LOBE, 4

General Information (adopted from Orphanet):

Synonyms, Signs: EPILEPSY, OCCIPITOTEMPORAL LOBE, AND MIGRAINE WITH AURA
ETL4
EPOLM
Number of Symptoms 12
OrphanetNr:
OMIM Id: 611631
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:0008765) Auditory hallucinations 8 / 7739
2
(HPO:0011165) Visual auras 3 / 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
(HPO:0002077) Migraine with aura 14 / 7739
6
(HPO:0003829) Incomplete penetrance 85 / 7739
7
(OMIM) Olfactory or auditory hallucinations 1 / 7739
8
(OMIM) Secondary generalization 3 / 7739
9
(OMIM) Migraine with aura, usually visual (in 50% of patients) 1 / 7739
10
(OMIM) Visual symptoms (in 60% of patients) 1 / 7739
11
(OMIM) Autonomic symptoms 6 / 7739
12
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Deprez et al. (2007) reported a 5-generation Belgian family with dominantly inherited occipitotemporal lobe epilepsy and migraine with visual aura. Age at onset ranged from childhood to adulthood. A total of 14 individuals were affected. Ten individuals had ...