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Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements

Summary

Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements (NEDNEH) is an autosomal recessive severe neurologic disorder characterized by delayed psychomotor development with inability to walk or speak, early-onset refractory seizures, and nonepileptic hyperkinetic movement disorders, including myoclonus dystonia and dyskinesias. Patients require tube feeding and may die of respiratory failure in childhood or in the second decade (summary by Gorman et al., 2019). [from OMIM]

Available tests

4 tests are in the database for this condition.

Clinical tests (4 available)

Molecular Genetics Tests

Genes See tests for all associated and related genes

  • Also known as: BIII, CACNL1A5, CACNN, Cav2.2, DYT23, NEDNEH, CACNA1B
    Summary: calcium voltage-gated channel subunit alpha1 B

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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