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GTR Home > Conditions/Phenotypes > Epilepsy, familial focal, with variable foci 1

Epilepsy, familial focal, with variable foci 1

Synonyms
DEPDC5-Related Epilepsy

Summary

Excerpted from the GeneReview: DEPDC5-Related Epilepsy
DEPDC5-related epilepsy encompasses a range of epilepsy syndromes, almost all of which are characterized by focal seizures, with seizure onset in a discrete area of the brain. While most individuals with DEPDC5-related epilepsy have a normal brain MRI, some have epilepsy associated with a cortical malformation, usually focal cortical dysplasia or hemimegalencephaly. Seizure syndromes include familial focal epilepsy with variable foci (FFEVF), autosomal dominant sleep-related hypermotor epilepsy (ADSHE), familial mesial temporal lobe epilepsies (FMTLE), autosomal dominant epilepsy with auditory features (ADEAF), infantile spasms, and severe developmental encephalopathy. Although psychomotor development is usually normal, developmental delays, intellectual disability, or autism spectrum disorder have been reported in some individuals.
Full text of GeneReview (by section):
Summary
GeneReview Scope
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Stéphanie Baulac
Sara Baldassari
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Available tests

25 tests are in the database for this condition.

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Clinical tests (25 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE111, DEP.5, FFEVF, FFEVF1, FPEVF, DEPDC5
    Summary: DEP domain containing 5, GATOR1 subcomplex subunit

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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