Parents

SPTAN1-related disorders can be broadly classified into three phenotypic subgroups. The first group comprises severe developmental and epileptic encephalopathy (OMIM #613477, DEE5).

The second group manifests milder developmental delay (DD) / intellectual disability (ID) with or without epilepsy. The final group consists of the patients with spastic paraplegia and ataxia.

Accurate prevalence is not available at present, and fewer than 100 cases were reported to date. Most variants are heterozygous variants but occurred de novo, therefore, it is not inherited in most families. Inherited patients are reported in some families with spastic paraplegia or motor neuropathy.