SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders: Included Phenotypes

PhenotypeSCN8A-Related Disorder 1, 2
Epilepsy ± neurodevelopmental featuresDevelopmental and epileptic encephalopathy (DEE)
Mild-to-moderate developmental and epileptic encephalopathy (mild/modDEE, also referred to as intermediate epilepsy or IE 2)
Self-limited familial infantile epilepsy (SeLFIE, also referred to as benign familial infantile epilepsy or BFIE 2)
Neurodevelopmental disorder with generalized epilepsy (NDDwGE)
Neurodevelopmental disorderNeurodevelopmental disorder without epilepsy (NDDwoE)
1.

For other genetic causes of these phenotypes, see Differential Diagnosis.

2.

From: SCN8A-Related Epilepsy and/or Neurodevelopmental Disorders

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