KCNT1 - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

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
Developmental and Epileptic Encephalopathy 14	causative	subtype: ADSHE; EIMFS; Focal and Multifocal Epilepsy; Other DEE treatment: KCNT1-Lowering Antisense Oligonucleotide (investigational)
Early-Infantile Developmental and Epileptic Encephalopathy	causative de novo
Epilepsy of Infancy with Migrating Focal Seizures	causative germline	mechanism: KCNT1 Gain-of-Function Mutation
Familial Sleep-Related Hypermotor Epilepsy	untyped Causal potassium-channel variant	mechanism: Inherited ADSHE gene architecture; KCNT1 Slack channel altered excitability subtype: Type 5

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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
childhood-onset epilepsy syndrome MONDO:0020072	AD	Definitive 2022-08-16	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.