Trăsături

Trăsături asociate cu KCNT1

potassium sodium-activated channel subfamily T member 1

Human Phenotype Ontology asociază 76 trăsături cu KCNT1, grupate pe sisteme ale organismului: trăsături observate la persoanele cu una dintre afecțiunile rare ale genei.

Abnormality of the nervous system

Trăsătură	Cât de frecvent apare
Brain degeneration	Întotdeauna
Epileptic encephalopathy	Întotdeauna
Focal motor seizure	Întotdeauna
Generalized-onset motor seizure	Întotdeauna
Interictal epileptiform activity	Întotdeauna
Cognitive impairment	Foarte des (80–99%)
Inability to walk	Foarte des (80–99%)
Loss of developmental milestones	Foarte des (80–99%)
Multifocal epileptiform discharges	Foarte des (80–99%)
Neurodevelopmental delay	Foarte des (80–99%)
Nocturnal seizures	Foarte des (80–99%)
Behavioral abnormality	Des (30–79%)
Bilateral tonic-clonic seizure with focal onset	Des (30–79%)
Decrease in size of the outer layer of the brain due to loss of brain cells	Des (30–79%)
Degeneration of cerebrum	Des (30–79%)
Delayed CNS myelination	Des (30–79%)
Focal autonomic seizure	Des (30–79%)
Focal emotional seizure with laughing	Des (30–79%)
Focal hemiclonic seizure	Des (30–79%)
Focal impaired awareness seizure	Des (30–79%)
Focal tonic seizure	Des (30–79%)
Generalized tonic seizure	Des (30–79%)
Grand mal seizures	Des (30–79%)
Inability to walk by childhood/adolescence	Des (30–79%)
Intellectual disability	Des (30–79%)
Involuntary movements	Des (30–79%)
Myoclonic seizure	Des (30–79%)
Paroxysmal dystonia	Des (30–79%)
Profound global developmental delay	Des (30–79%)
Repetitive movements	Des (30–79%)
Thin corpus callosum	Des (30–79%)
Underdevelopment of part of brain called corpus callosum	Des (30–79%)
Abnormal corpus callosum morphology	Uneori (5–29%)
Absent speech development	Uneori (5–29%)
Aggressive behavior	Uneori (5–29%)
Anxiety	Uneori (5–29%)
Delayed myelination	Uneori (5–29%)
Depression	Uneori (5–29%)
EEG with focal spikes	Uneori (5–29%)
Epileptic spasm	Uneori (5–29%)
Focal autonomic seizure with palpitations/tachycardia/bradycardia/asystole	Uneori (5–29%)
Focal clonic seizure	Uneori (5–29%)
Focal hyperkinetic seizure	Uneori (5–29%)
Generalized clonic seizure	Uneori (5–29%)
Hypsarrhythmia	Uneori (5–29%)
Increased theta frequency activity in EEG	Uneori (5–29%)
Personality disorder	Uneori (5–29%)
Poor eye contact	Uneori (5–29%)
Psychosis	Uneori (5–29%)
Repeated seizures without recovery between them	Uneori (5–29%)
Sleep walking	Uneori (5–29%)
Suicidal ideation	Uneori (5–29%)
Attention deficit	Rar (1–4%)
Intellectual disability, mild	Rar (1–4%)
NREM parasomnia	Rar (1–4%)
Psychotic mentation	Rar (1–4%)
Clonus	Neînregistrat
Gliosis	Neînregistrat
Increased reflexes	Neînregistrat
Loss of brain cells	Neînregistrat
Paralysis of all four limbs	Neînregistrat
Seizure affecting one half of brain	Neînregistrat

Abnormality of the musculoskeletal system

Trăsătură	Cât de frecvent apare
Low muscle tone	Întotdeauna
Functional motor deficit	Foarte des (80–99%)
Generalized decreased muscle tone	Des (30–79%)
Low muscle tone in trunk	Des (30–79%)
Scoliosis	Uneori (5–29%)
Spasticity and rigidity of muscles	Uneori (5–29%)
Involuntary muscle stiffness, contraction, or spasm	Neînregistrat

Abnormality of head or neck

Trăsătură	Cât de frecvent apare
Abnormally small head	Des (30–79%)

Abnormality of the cardiovascular system

Trăsătură	Cât de frecvent apare
Aortopulmonary collateral arteries	Uneori (5–29%)

Abnormality of the endocrine system

Trăsătură	Cât de frecvent apare
Early onset of puberty	Rar (1–4%)

Abnormality of the eye

Trăsătură	Cât de frecvent apare
Visual impairment	Uneori (5–29%)

Abnormality of the genitourinary system

Trăsătură	Cât de frecvent apare
Loss of bladder control	Uneori (5–29%)

Abnormality of the respiratory system

Trăsătură	Cât de frecvent apare
Rapid breathing	Uneori (5–29%)

Growth abnormality

Trăsătură	Cât de frecvent apare
Faltering weight	Uneori (5–29%)

Cât de frecvent apare în rândul persoanelor cu una dintre afecțiunile asociate genei, cel mai des întâlnit dintre acestea, conform Human Phenotype Ontology. Aceste pagini descriu trăsături și cercetările din spatele lor; ele nu reprezintă un diagnostic, iar pentru simptome trebuie să vă adresați medicului sau consilierului genetic.

De unde provin aceste informații

Human Phenotype Ontology, versiunea 2026-09-01: trăsăturile asociate cu KCNT1 și frecvența cu care fiecare este observată. Aflați mai multe la hpo.jax.org.

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