ETL7
MCID: EPL150
MIFTS: 35
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Epilepsy, Familial Temporal Lobe, 7 (ETL7)
Categories:
Ear diseases, Genetic diseases, Neuronal diseases, Rare diseases
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MalaCards integrated aliases for Epilepsy, Familial Temporal Lobe, 7:
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Miscellaneous:
incomplete penetrance
Inheritance:
autosomal dominant HPO:31
epilepsy, familial temporal lobe, 7:
Inheritance autosomal dominant inheritance Onset and clinical course incomplete penetrance Classifications:
MalaCards categories:
Global: Genetic diseases Rare diseases Anatomical: Neuronal diseases Ear diseases |
OMIM® :
57
Familial temporal lobe epilepsy-7 is a form of autosomal dominant lateral temporal lobe epilepsy characterized by focal seizures with prominent auditory symptoms (summary by Dazzo et al., 2015).
For a general description and a discussion of genetic heterogeneity of familial temporal lobe epilepsy, see 600512. (616436) (Updated 05-Mar-2021)
MalaCards based summary : Epilepsy, Familial Temporal Lobe, 7, also known as etl7, is related to autosomal dominant epilepsy with auditory features and epilepsy, familial temporal lobe, 1. An important gene associated with Epilepsy, Familial Temporal Lobe, 7 is RELN (Reelin), and among its related pathways/superpathways are Spinocerebellar ataxia and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include temporal lobe, and related phenotypes are focal sensory seizure with auditory features and nervous system Disease Ontology : 12 A temporal lobe epilepsy characterized by autosomal dominant inheritance of focal seizures with prominent auditory symptoms and that has material basis in heterozygous mutation in the RELN gene on chromosome 7q22. UniProtKB/Swiss-Prot : 73 Epilepsy, familial temporal lobe, 7: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. |
Diseases in the Temporal Lobe Epilepsy family:Diseases related to Epilepsy, Familial Temporal Lobe, 7 via text searches within MalaCards or GeneCards Suite gene sharing:
Graphical network of the top 20 diseases related to Epilepsy, Familial Temporal Lobe, 7:![]() |
Human phenotypes related to Epilepsy, Familial Temporal Lobe, 7:31
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MalaCards organs/tissues related to Epilepsy, Familial Temporal Lobe, 7:40
Temporal Lobe
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Articles related to Epilepsy, Familial Temporal Lobe, 7:
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ClinVar genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:6 (show top 50) (show all 699)
UniProtKB/Swiss-Prot genetic disease variations for Epilepsy, Familial Temporal Lobe, 7:73
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Search
GEO
for disease gene expression data for Epilepsy, Familial Temporal Lobe, 7.
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Cellular components related to Epilepsy, Familial Temporal Lobe, 7 according to GeneCards Suite gene sharing:
Biological processes related to Epilepsy, Familial Temporal Lobe, 7 according to GeneCards Suite gene sharing:
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