Tratti

Tratti collegati a SCN1A

sodium voltage-gated channel alpha subunit 1

La Human Phenotype Ontology collega 222 tratti a SCN1A, per sistema corporeo: caratteristiche osservate in persone con una delle condizioni rare del gene.

Abnormality of the nervous system

Tratto	Frequenza di osservazione
Global developmental delay	Sempre
Grand mal seizures	Sempre
Inability to walk	Sempre
IQ less than 20	Sempre
Migraine with aura	Sempre
Multifocal epileptiform discharges	Sempre
Myoclonic seizure	Sempre
Abnormal speech pattern	Molto spesso (80–99%)
Absent speech development	Molto spesso (80–99%)
Ataxia	Molto spesso (80–99%)
Cognitive impairment	Molto spesso (80–99%)
EEG abnormality	Molto spesso (80–99%)
EEG with focal sharp slow waves	Molto spesso (80–99%)
EEG with focal spike waves	Molto spesso (80–99%)
Encephalopathy	Molto spesso (80–99%)
Fear of loud sounds	Molto spesso (80–99%)
Focal motor seizure	Molto spesso (80–99%)
Focal sensory seizure	Molto spesso (80–99%)
Generalized myoclonic-atonic seizure	Molto spesso (80–99%)
Generalized-onset seizure	Molto spesso (80–99%)
Intellectual disability	Molto spesso (80–99%)
Loss of developmental milestones	Molto spesso (80–99%)
Neurodevelopmental delay	Molto spesso (80–99%)
Progressive gait ataxia	Molto spesso (80–99%)
Seizure affecting one half of brain	Molto spesso (80–99%)
Abnormal shape of brainstem	Spesso (30–79%)
Abnormality of coordination	Spesso (30–79%)
Aggressive behavior	Spesso (30–79%)
Anxiety	Spesso (30–79%)
Attention deficit	Spesso (30–79%)
Atypical absence seizure	Spesso (30–79%)
Autism spectrum disorder	Spesso (30–79%)
Balance impairment	Spesso (30–79%)
Behavioral abnormality	Spesso (30–79%)
Bilateral tonic-clonic seizure with focal onset	Spesso (30–79%)
Bilateral tonic-clonic seizure with generalized onset	Spesso (30–79%)
Brief seizures with staring spells	Spesso (30–79%)
Choreoathetosis	Spesso (30–79%)
Complex febrile seizure	Spesso (30–79%)
Confusion	Spesso (30–79%)
CSF lymphocytic pleiocytosis	Spesso (30–79%)
CSF pleocytosis	Spesso (30–79%)
Decreased reflex response	Spesso (30–79%)
Degeneration of cerebrum	Spesso (30–79%)
Delayed speech and language development	Spesso (30–79%)
Difficulty articulating speech	Spesso (30–79%)
Dissociated sensory loss	Spesso (30–79%)
Dystonia	Spesso (30–79%)
EEG with multifocal slow activity	Spesso (30–79%)
EEG with polyspike wave complexes	Spesso (30–79%)
EEG with spike-wave complexes (>3.5 Hz)	Spesso (30–79%)
Epilepsia partialis continua	Spesso (30–79%)
Epilepsy	Spesso (30–79%)
Epileptic spasm	Spesso (30–79%)
Falls	Spesso (30–79%)
Febrile seizure (within the age range of 3 months to 6 years)	Spesso (30–79%)
Focal aware seizure	Spesso (30–79%)
Focal emotional seizure with laughing	Spesso (30–79%)
Focal hemiclonic seizure	Spesso (30–79%)
Focal impaired awareness seizure	Spesso (30–79%)
Focal manual automatism seizure	Spesso (30–79%)
Focal pedal automatism seizure	Spesso (30–79%)
Generalized clonic seizure	Spesso (30–79%)
Generalized myoclonic seizure	Spesso (30–79%)
Generalized tonic seizure	Spesso (30–79%)
Hyperactive movements	Spesso (30–79%)
Intellectual disability, severe	Spesso (30–79%)
Interictal epileptiform activity	Spesso (30–79%)
Involuntary movements	Spesso (30–79%)
IQ between 34 and 49	Spesso (30–79%)
Irritability	Spesso (30–79%)
Jerking	Spesso (30–79%)
Lack of peer relationships	Spesso (30–79%)
Mental deterioration	Spesso (30–79%)
More active than typical	Spesso (30–79%)
Obsessive-compulsive trait	Spesso (30–79%)
Parkinsonism	Spesso (30–79%)
Personality disorder	Spesso (30–79%)
Photosensitive myoclonic seizure	Spesso (30–79%)
Photosensitive tonic-clonic seizure	Spesso (30–79%)
Pins and needles feeling	Spesso (30–79%)
Slow movements	Spesso (30–79%)
Small hippocampus	Spesso (30–79%)
Status epilepticus without prominent motor symptoms	Spesso (30–79%)
Sudden loss of muscle tone	Spesso (30–79%)
Tonic seizure	Spesso (30–79%)
Weakness of one side of body	Spesso (30–79%)
Abnormal corpus callosum morphology	A volte (5–29%)
Abnormal emotional state	A volte (5–29%)
Abnormal gait	A volte (5–29%)
Abnormal myelination	A volte (5–29%)
Action tremor	A volte (5–29%)
Alien limb phenomenon	A volte (5–29%)
Atypical absence status epilepticus	A volte (5–29%)
Autism	A volte (5–29%)
Brain degeneration	A volte (5–29%)
Brain imaging abnormality	A volte (5–29%)
Brisk reflexes	A volte (5–29%)
Chorea	A volte (5–29%)
Coma	A volte (5–29%)
Cortical dysplasia	A volte (5–29%)
Decreased vigilance	A volte (5–29%)
Degeneration of cerebellum	A volte (5–29%)
Delayed myelination	A volte (5–29%)
Difficulty finding words	A volte (5–29%)
Diminished deep tendon reflex	A volte (5–29%)
Disorder of involuntary muscle movements	A volte (5–29%)
Dysgenesis of the hippocampus	A volte (5–29%)
EEG with focal epileptiform discharges	A volte (5–29%)
EEG with generalized epileptiform discharges	A volte (5–29%)
EEG with generalized sharp slow waves	A volte (5–29%)
EEG with generalized slow activity	A volte (5–29%)
EEG with irregular generalized spike and wave complexes	A volte (5–29%)
EEG with spike-wave complexes	A volte (5–29%)
Fluid-filled sac located in membrane surrounding brain or spinal cord	A volte (5–29%)
Generalized brain degeneration	A volte (5–29%)
Generalized cerebral degeneration/underdevelopment	A volte (5–29%)
Hypsarrhythmia	A volte (5–29%)
Impaired temperature sensation	A volte (5–29%)
Impulsivity	A volte (5–29%)
Incoordination	A volte (5–29%)
Lack of feeling, emotion, interest	A volte (5–29%)
Language impairment	A volte (5–29%)
Myoclonic absence seizure	A volte (5–29%)
Paralysis on one side of body	A volte (5–29%)
Poor fine motor coordination	A volte (5–29%)
Poor social interactions	A volte (5–29%)
Psychosis	A volte (5–29%)
Repetitive movements	A volte (5–29%)
Short attention span	A volte (5–29%)
Simple febrile seizure	A volte (5–29%)
Spontaneous pain sensation	A volte (5–29%)
Tremor	A volte (5–29%)
Unsteady walk	A volte (5–29%)
Abnormal pyramidal sign	Raramente (1–4%)
EEG with focal sharp waves	Raramente (1–4%)
Epileptic encephalopathy	Raramente (1–4%)
Repeated seizures without recovery between them	Raramente (1–4%)
Motor delay	Non registrato
Visually-induced seizure	Non registrato

Abnormality of head or neck

Tratto	Frequenza di osservazione
Abnormally small head	Spesso (30–79%)
Facial tics	Spesso (30–79%)
Limited neck range of motion	Spesso (30–79%)
Tongue twitching	Spesso (30–79%)
Downward slanting of the opening between the eyelids	A volte (5–29%)
Drooling	A volte (5–29%)
Facial paralysis	A volte (5–29%)
Failure of development of between one and six teeth	A volte (5–29%)
High forehead	A volte (5–29%)
Narrow mouth	A volte (5–29%)
Nuchal rigidity	A volte (5–29%)
Abnormal facial shape	Raramente (1–4%)
Broad philtrum	Raramente (1–4%)
Full lower lip	Raramente (1–4%)
Long philtrum	Raramente (1–4%)
Nasal tip, upturned	Raramente (1–4%)
Prominent forehead	Raramente (1–4%)
Thick nasal alae	Raramente (1–4%)
Thin red part of the upper lip	Raramente (1–4%)
Wide mouth	Raramente (1–4%)
Wide nasal bridge	Raramente (1–4%)
Development of small head that was not present at birth	Non registrato

Abnormality of the eye

Tratto	Frequenza di osservazione
Extreme sensitivity of the eyes to light	Molto spesso (80–99%)
Blind spot	Spesso (30–79%)
Double vision	Spesso (30–79%)
Metamorphopsia	Spesso (30–79%)
Photopsia	Spesso (30–79%)
Drooping upper eyelid	A volte (5–29%)
Gaze-evoked horizontal nystagmus	A volte (5–29%)
Involuntary, rapid, rhythmic eye movements	A volte (5–29%)
Seesaw nystagmus	A volte (5–29%)
Spasmus nutans	A volte (5–29%)
Vertical nystagmus	A volte (5–29%)
Visual impairment	A volte (5–29%)
Wide-set eyes	A volte (5–29%)
Abnormal involuntary eye movements	Raramente (1–4%)
Abnormality of vision	Raramente (1–4%)
Abnormally small eyeball	Raramente (1–4%)
Amaurosis fugax	Raramente (1–4%)
Optic atrophy	Raramente (1–4%)
Retina degeneration	Raramente (1–4%)
Blindness	Non registrato
Cerebral visual impairment	Non registrato

Abnormality of the musculoskeletal system

Tratto	Frequenza di osservazione
Low muscle tone	Sempre
Functional motor deficit	Molto spesso (80–99%)
Muscle weakness	Molto spesso (80–99%)
Cogwheel rigidity	Spesso (30–79%)
Generalized decreased muscle tone	Spesso (30–79%)
Low muscle tone in trunk	Spesso (30–79%)
Rigidity	Spesso (30–79%)
Decreased muscle tone in infant	A volte (5–29%)
Involuntary muscle stiffness, contraction, or spasm	A volte (5–29%)
Poor head control	A volte (5–29%)
Scoliosis	A volte (5–29%)
Spasticity and rigidity of muscles	A volte (5–29%)
First dorsal interossei muscle weakness	Raramente (1–4%)

Abnormality of limbs

Tratto	Frequenza di osservazione
Distal upper limb muscle weakness	A volte (5–29%)
Dropped arches	A volte (5–29%)
Limited knee straightening	A volte (5–29%)
Pes valgus	A volte (5–29%)
Tibial torsion	A volte (5–29%)
Increased muscle tone of arm or leg	Raramente (1–4%)
Talipes valgus	Raramente (1–4%)
Webbed fingers or toes	Raramente (1–4%)

Abnormality of the integument

Tratto	Frequenza di osservazione
Cyanotic episode	A volte (5–29%)
Paleness	A volte (5–29%)
Frontal balding	Raramente (1–4%)
Premature skin wrinkling	Raramente (1–4%)

Abnormality of the digestive system

Tratto	Frequenza di osservazione
Gastrostomy tube feeding in infancy	Sempre
Acid reflux	A volte (5–29%)
Feeding difficulties	A volte (5–29%)

Abnormality of the ear

Tratto	Frequenza di osservazione
Dizziness	Spesso (30–79%)
Hearing impairment	Spesso (30–79%)
Ringing in ears	A volte (5–29%)

Growth abnormality

Tratto	Frequenza di osservazione
Faltering weight	Spesso (30–79%)
Short stature	A volte (5–29%)

Laboratory abnormality

Tratto	Frequenza di osservazione
Brain swelling	Spesso (30–79%)
Increased CSF protein concentration	Spesso (30–79%)

Abnormality of prenatal development or birth

Tratto	Frequenza di osservazione
Less than 10 fetal movements in 12 hours	A volte (5–29%)

Abnormality of the cardiovascular system

Tratto	Frequenza di osservazione
Aortopulmonary collateral arteries	A volte (5–29%)

Abnormality of the endocrine system

Tratto	Frequenza di osservazione
Early onset of puberty	Raramente (1–4%)

Constitutional symptom

Tratto	Frequenza di osservazione
Sudden unexpected death in epilepsy	A volte (5–29%)

Con quale frequenza questo tratto si presenta tra le persone con una delle condizioni legate al gene, nella misura più alta riscontrata tra queste, secondo quanto registrato dall'Human Phenotype Ontology. Queste pagine descrivono tratti e la ricerca che li riguarda; non costituiscono una diagnosi, e per i sintomi il medico o il consulente genetico è la persona a cui rivolgersi.

Fonte dei dati

Human Phenotype Ontology, versione 2026-09-01: i tratti collegati a SCN1A e la frequenza con cui ciascuno viene osservato. Per saperne di più visiti hpo.jax.org.

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