Autosomal Dominant Epilepsy with Auditory Features (ETL1)

Alias:
Adlte
Adeaf
Autosomal Dominant Lateral Temporal Lobe Epilepsy
Adpeaf
Autosomal Dominant Partial Epilepsy with Auditory Features
Partial Epilepsy with Auditory Features
Partial Epilepsy with Auditory Aura
Epilepsy, Lateral Temporal Lobe, Autosomal Dominant
Autosomal Dominant Lateral Temporal Epilepsy
Epilepsy, Partial, with Auditory Features
Etl1
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
Disease Model
References Literature
Autosomal Dominant Epilepsy with Auditory Features, also known as adlte, is related to epilepsy, familial temporal lobe, 1 and epilepsy, familial temporal lobe, 7. An important gene associated with Autosomal Dominant Epilepsy with Auditory Features is LGI1 (Leucine Rich Glioma Inactivated 1), and among its related pathways/superpathways is 22q11.2 copy number variation syndrome. Affiliated tissues include temporal lobe and brain, and related phenotypes are focal-onset seizure and eeg with focal epileptiform discharges
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Basic Information

Inheritance
Age of Onset
Prevalence
Related Gene
Related Mouse Models
Reference
MALACARDS
AD
Child
--
3
42
83

Medical Symptom

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Categorization
Description
HPO Frequency
Orphanet Frequency
HPO Source Accession
No data available

Gene & Mutation

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Gene
Function
Score
Mutations
No data available

Related Drugs

Name
CAS Number
Status
Phase
No data available

Disease Model

Category
Name
MGI
Related Gene
Strain of Origin
Publications
No data available

References Literature

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PMID
Journal
Year
IF
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