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GTR Home > Conditions/Phenotypes > Developmental and epileptic encephalopathy 94

Developmental and epileptic encephalopathy 94

Synonyms
CHD2-Related Neurodevelopmental Disorders; Epileptic encephalopathy, childhood-onset

Summary

Excerpted from the GeneReview: CHD2-Related Neurodevelopmental Disorders
CHD2-related neurodevelopmental disorders are characterized by early-onset epileptic encephalopathy (i.e., refractory seizures and cognitive slowing or regression associated with frequent ongoing epileptiform activity). Seizure onset is typically between ages six months and four years. Seizure types typically include drop attacks, myoclonus, and rapid onset of multiple seizure types associated with generalized spike-wave on EEG, atonic-myoclonic-absence seizures, and clinical photosensitivity. Intellectual disability and/or autism spectrum disorders are common.
Full text of GeneReview (by section):
Summary
Diagnosis
Clinical Characteristics
Genetically Related (Allelic) Disorders
Differential Diagnosis
Management
Genetic Counseling
Resources
Molecular Genetics
Chapter Notes
References
Authors:
Gemma L Carvill
Heather C Mefford
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Available tests

42 tests are in the database for this condition.

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Clinical tests (41 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: DEE94, EEOC, CHD2
    Summary: chromodomain helicase DNA binding protein 2

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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