Previous symbols: MED. Aliases: Nav1.6, NaCh6, PN4, CerIII, CIAT.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Benign Familial Infantile Epilepsy | causative |
mechanism: SCN8A Nav1.6 Familial Epilepsy Association
subtype: SCN8A-related BFIS
dataset: PMID:38160512
discussion: (unnamed)
scoped to subtype: SCN8A-related BFIS
|
| Early-Infantile Developmental and Epileptic Encephalopathy | causative de novo | |
| Genetic Developmental and Epileptic Encephalopathy | causative |
mechanism: Genetic Lesion in an Ion Channel or Synaptic Gene
|
| SCN8A-Related Developmental and Epileptic Encephalopathy | causative germline |
mechanism: SCN8A Gain-of-Function Variant (Nav1.6)
|
| Undetermined Early-Onset Epileptic Encephalopathy | causative germline |
mechanism: Early developmental brain network dysfunction
subtype: DEE13
scoped to subtype: DEE13
|
| Spinocerebellar Ataxia 27A | no genetic record |
mechanism: Loss of FGF14 Regulation of Purkinje Neuron Nav Channels
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| complex neurodevelopmental disorder MONDO:0100038 | AD | Definitive 2018-07-18 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.