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ETL4
MCID: EPL113
MIFTS: 23
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Epilepsy, Familial Temporal Lobe, 4 (ETL4)
Categories:
Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 4:
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
variable age at onset of seizures mean age at onset of migraines is 42 years reduced penetrance (75%) HPO:31
epilepsy, familial temporal lobe, 4:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications: |
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Disease Ontology :
12
A temporal lobe epilepsy characterized by autosomal dominant inheritance of occipitotemporal lobe epilepsy and migraine with visual aura and that has material basis in variation in the chromosome region 9q21-q22.
MalaCards based summary : Epilepsy, Familial Temporal Lobe, 4, also known as familial temporal lobe epilepsy 4, is related to migraine with aura and temporal epilepsy, familial. An important gene associated with Epilepsy, Familial Temporal Lobe, 4 is ETL4 (Epilepsy, Occipitotemporal Lobe, And Migraine With Aura). Affiliated tissues include temporal lobe and bone, and related phenotypes are focal impaired awareness seizure and auditory hallucinations |
Diseases in the Temporal Lobe Epilepsy family:Diseases related to Epilepsy, Familial Temporal Lobe, 4 via text searches within MalaCards or GeneCards Suite gene sharing:(showing 2, show less)
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Human phenotypes related to Epilepsy, Familial Temporal Lobe, 4:31 (showing 5, show less)
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MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 4:40
Temporal Lobe,
Bone
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Articles related to Epilepsy, Familial Temporal Lobe, 4:(showing 4, show less)
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Genes related to Epilepsy, Familial Temporal Lobe, 4 (1 elite genes):(showing 14, show less) - Elite gene
- Cancer Census gene in COSMIC
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Search
GEO
for disease gene expression data for Epilepsy, Familial Temporal Lobe, 4.
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