Traits

Traits linked to KCNT1

potassium sodium-activated channel subfamily T member 1

The Human Phenotype Ontology links 76 traits to KCNT1, by body system: features seen in people with one of the gene's rare conditions.

Abnormality of the nervous system

Trait	How often it is seen
Brain degeneration	Always
Epileptic encephalopathy	Always
Focal motor seizure	Always
Generalized-onset motor seizure	Always
Interictal epileptiform activity	Always
Cognitive impairment	Very often (80–99%)
Inability to walk	Very often (80–99%)
Loss of developmental milestones	Very often (80–99%)
Multifocal epileptiform discharges	Very often (80–99%)
Neurodevelopmental delay	Very often (80–99%)
Nocturnal seizures	Very often (80–99%)
Behavioral abnormality	Often (30–79%)
Bilateral tonic-clonic seizure with focal onset	Often (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Often (30–79%)
Degeneration of cerebrum	Often (30–79%)
Delayed CNS myelination	Often (30–79%)
Focal autonomic seizure	Often (30–79%)
Focal emotional seizure with laughing	Often (30–79%)
Focal hemiclonic seizure	Often (30–79%)
Focal impaired awareness seizure	Often (30–79%)
Focal tonic seizure	Often (30–79%)
Generalized tonic seizure	Often (30–79%)
Grand mal seizures	Often (30–79%)
Inability to walk by childhood/adolescence	Often (30–79%)
Intellectual disability	Often (30–79%)
Involuntary movements	Often (30–79%)
Myoclonic seizure	Often (30–79%)
Paroxysmal dystonia	Often (30–79%)
Profound global developmental delay	Often (30–79%)
Repetitive movements	Often (30–79%)
Thin corpus callosum	Often (30–79%)
Underdevelopment of part of brain called corpus callosum	Often (30–79%)
Abnormal corpus callosum morphology	Sometimes (5–29%)
Absent speech development	Sometimes (5–29%)
Aggressive behavior	Sometimes (5–29%)
Anxiety	Sometimes (5–29%)
Delayed myelination	Sometimes (5–29%)
Depression	Sometimes (5–29%)
EEG with focal spikes	Sometimes (5–29%)
Epileptic spasm	Sometimes (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Sometimes (5–29%)
Focal clonic seizure	Sometimes (5–29%)
Focal hyperkinetic seizure	Sometimes (5–29%)
Generalized clonic seizure	Sometimes (5–29%)
Hypsarrhythmia	Sometimes (5–29%)
Increased theta frequency activity in EEG	Sometimes (5–29%)
Personality disorder	Sometimes (5–29%)
Poor eye contact	Sometimes (5–29%)
Psychosis	Sometimes (5–29%)
Repeated seizures without recovery between them	Sometimes (5–29%)
Sleep walking	Sometimes (5–29%)
Suicidal ideation	Sometimes (5–29%)
Attention deficit	Rarely (1–4%)
Intellectual disability, mild	Rarely (1–4%)
NREM parasomnia	Rarely (1–4%)
Psychotic mentation	Rarely (1–4%)
Clonus	Not recorded
Gliosis	Not recorded
Increased reflexes	Not recorded
Loss of brain cells	Not recorded
Paralysis of all four limbs	Not recorded
Seizure affecting one half of brain	Not recorded

Abnormality of the musculoskeletal system

Trait	How often it is seen
Low muscle tone	Always
Functional motor deficit	Very often (80–99%)
Generalized decreased muscle tone	Often (30–79%)
Low muscle tone in trunk	Often (30–79%)
Scoliosis	Sometimes (5–29%)
Spasticity and rigidity of muscles	Sometimes (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Not recorded

Abnormality of head or neck

Trait	How often it is seen
Abnormally small head	Often (30–79%)

Abnormality of the cardiovascular system

Trait	How often it is seen
Aortopulmonary collateral arteries	Sometimes (5–29%)

Abnormality of the endocrine system

Trait	How often it is seen
Early onset of puberty	Rarely (1–4%)

Abnormality of the eye

Trait	How often it is seen
Visual impairment	Sometimes (5–29%)

Abnormality of the genitourinary system

Trait	How often it is seen
Loss of bladder control	Sometimes (5–29%)

Abnormality of the respiratory system

Trait	How often it is seen
Rapid breathing	Sometimes (5–29%)

Growth abnormality

Trait	How often it is seen
Faltering weight	Sometimes (5–29%)

How often is among people with one of the gene's conditions, the most often across them, as the Human Phenotype Ontology records it. These pages describe traits and the research behind them; they are not a diagnosis, and a doctor or genetic counsellor is the person to ask about symptoms.

Where this comes from

The Human Phenotype Ontology, release 2026-09-01: the traits linked to KCNT1 and how often each is seen. Find out more at hpo.jax.org.

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