Özellikler

SCN1A ile ilişkili özellikler

sodium voltage-gated channel alpha subunit 1

Human Phenotype Ontology, SCN1A ile ilişkili 222 özelliği vücut sistemine göre listeliyor: genin nadir hastalıklarından birine sahip kişilerde görülen özellikler.

SCN1A

Abnormality of the nervous system

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

Abnormality of head or neck

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

Abnormality of the eye

Özellik	Ne sıklıkla görüldüğü
Extreme sensitivity of the eyes to light	Çok sık (%80–99)
Blind spot	Sık (%30–79)
Double vision	Sık (%30–79)
Metamorphopsia	Sık (%30–79)
Photopsia	Sık (%30–79)
Drooping upper eyelid	Bazen (%5–29)
Gaze-evoked horizontal nystagmus	Bazen (%5–29)
Involuntary, rapid, rhythmic eye movements	Bazen (%5–29)
Seesaw nystagmus	Bazen (%5–29)
Spasmus nutans	Bazen (%5–29)
Vertical nystagmus	Bazen (%5–29)
Visual impairment	Bazen (%5–29)
Wide-set eyes	Bazen (%5–29)
Abnormal involuntary eye movements	Seyrek (%1–4)
Abnormality of vision	Seyrek (%1–4)
Abnormally small eyeball	Seyrek (%1–4)
Amaurosis fugax	Seyrek (%1–4)
Optic atrophy	Seyrek (%1–4)
Retina degeneration	Seyrek (%1–4)
Blindness	Kaydedilmedi
Cerebral visual impairment	Kaydedilmedi

Abnormality of the musculoskeletal system

Özellik	Ne sıklıkla görüldüğü
Low muscle tone	Her zaman
Functional motor deficit	Çok sık (%80–99)
Muscle weakness	Çok sık (%80–99)
Cogwheel rigidity	Sık (%30–79)
Generalized decreased muscle tone	Sık (%30–79)
Low muscle tone in trunk	Sık (%30–79)
Rigidity	Sık (%30–79)
Decreased muscle tone in infant	Bazen (%5–29)
Involuntary muscle stiffness, contraction, or spasm	Bazen (%5–29)
Poor head control	Bazen (%5–29)
Scoliosis	Bazen (%5–29)
Spasticity and rigidity of muscles	Bazen (%5–29)
First dorsal interossei muscle weakness	Seyrek (%1–4)

Abnormality of limbs

Özellik	Ne sıklıkla görüldüğü
Distal upper limb muscle weakness	Bazen (%5–29)
Dropped arches	Bazen (%5–29)
Limited knee straightening	Bazen (%5–29)
Pes valgus	Bazen (%5–29)
Tibial torsion	Bazen (%5–29)
Increased muscle tone of arm or leg	Seyrek (%1–4)
Talipes valgus	Seyrek (%1–4)
Webbed fingers or toes	Seyrek (%1–4)

Abnormality of the integument

Özellik	Ne sıklıkla görüldüğü
Cyanotic episode	Bazen (%5–29)
Paleness	Bazen (%5–29)
Frontal balding	Seyrek (%1–4)
Premature skin wrinkling	Seyrek (%1–4)

Abnormality of the digestive system

Özellik	Ne sıklıkla görüldüğü
Gastrostomy tube feeding in infancy	Her zaman
Acid reflux	Bazen (%5–29)
Feeding difficulties	Bazen (%5–29)

Abnormality of the ear

Özellik	Ne sıklıkla görüldüğü
Dizziness	Sık (%30–79)
Hearing impairment	Sık (%30–79)
Ringing in ears	Bazen (%5–29)

Growth abnormality

Özellik	Ne sıklıkla görüldüğü
Faltering weight	Sık (%30–79)
Short stature	Bazen (%5–29)

Laboratory abnormality

Özellik	Ne sıklıkla görüldüğü
Brain swelling	Sık (%30–79)
Increased CSF protein concentration	Sık (%30–79)

Abnormality of prenatal development or birth

Özellik	Ne sıklıkla görüldüğü
Less than 10 fetal movements in 12 hours	Bazen (%5–29)

Abnormality of the cardiovascular system

Özellik	Ne sıklıkla görüldüğü
Aortopulmonary collateral arteries	Bazen (%5–29)

Abnormality of the endocrine system

Özellik	Ne sıklıkla görüldüğü
Early onset of puberty	Seyrek (%1–4)

Constitutional symptom

Özellik	Ne sıklıkla görüldüğü
Sudden unexpected death in epilepsy	Bazen (%5–29)

Bu özelliğin, genin ilişkili olduğu durumlardan birine sahip kişiler arasında ne sıklıkta görüldüğü; Human Phenotype Ontology'nin kaydettiği şekliyle, bunlar arasında en sık görülen oran. Bu sayfalar özellikleri ve bunların arkasındaki araştırmaları anlatır; tanı koymaz. Belirtiler hakkında bir doktora veya genetik danışmana başvurmanız gerekir.

Bilgilerin kaynağı

Human Phenotype Ontology, 2026-09-01 sürümü: SCN1A ile ilişkili özellikler ve her birinin ne sıklıkla görüldüğü. Daha fazla bilgi için hpo.jax.org adresini ziyaret edin.

Tek bir test. Ömür boyu yanıtlar.

$449'den başlayanÜcretsiz kargo · Sonuçlar 6–8 hafta içinde

Genome Test'imi al