Developmental and epileptic encephalopathy, 6
- Synonyms
- Early Infantile Epileptic Encephalopathy 6; SCN1A-Related Intractable Childhood Epilepsy with Generalized Tonic-Clonic Seizures; SCN1A-Related Severe Myoclonic Epilepsy in Infancy
Summary
Excerpted from the GeneReview:SCN1A seizure disorders encompass a spectrum that ranges from simple febrile seizures and generalized epilepsy with febrile seizures plus (GEFS+) at the mild end to Dravet syndrome and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end. Phenotypes with intractable seizures including Dravet syndrome are often associated with cognitive decline. Less commonly observed phenotypes include myoclonic astatic epilepsy (MAE), Lennox-Gastaut syndrome, infantile spasms, epilepsy with focal seizures, and vaccine-related encephalopathy and seizures. The phenotype of SCN1A seizure disorders can vary even within the same family.
- 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:
- Ian O Miller
- Marcio A Sotero de Menezes
- view full author information
Available tests
3 tests are in the database for this condition.
Clinical tests (3 available)
Molecular Genetics Tests
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