scn8a Phenotypes

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Phenotypes

Gene Literature (23)

Nucleotides (116)

Interactants (64)

XB-GENEPAGE-1011298

Gene Symbol: scn8a Gene Name: sodium channel, voltage gated, type VIII alpha subunit

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (83 sources): Abnormal corpus callosum morphology, Abnormal involuntary eye movements, Abnormal myelination, Abnormality of coordination, Abnormality of movement, Abnormality of the orbital region, Abnormality of vision, Amblyopia, Anxiety, Ataxia, Attention deficit hyperactivity disorder, Autism, Behavioral abnormality, Bilateral tonic-clonic seizure, Brain atrophy, Cerebral atrophy, Choreoathetosis, Cognitive impairment, Decreased fetal movement, Deeply set eye, Delayed speech and language development, Developmental regression, Difficulty walking, Downslanted palpebral fissures, Drug-induced agranulocytosis, Dysarthria, Dysesthesia, Dyskinesia, Dysmetria, Dysphasia, EEG with multifocal slow activity, Emotional lability, Encephalopathy, Epileptic encephalopathy, Epileptic spasm, Esophoria, Failure to thrive, Fatigue, Feeding difficulties, Focal-onset seizure, Gastroesophageal reflux, Gaze-evoked nystagmus, Generalized hypotonia, Generalized-onset seizure, Global developmental delay, Hallucinations, High forehead, Hypodontia, Hyporeflexia, Hypotonia, Hypsarrhythmia, Impulsivity, Intellectual disability, Involuntary movements, Limb hypertonia, Memory impairment, Mental deterioration, Microcephaly, Migraine, Motor stereotypy, Myoclonus, Nausea and vomiting, Normal interictal EEG, Nystagmus, Optic atrophy, Optic nerve hypoplasia, Paroxysmal choreoathetosis, Paroxysmal dyskinesia, Paroxysmal dystonia, Poor head control, Progressive microcephaly, Ptosis, Reduced consciousness/confusion, Reduced tendon reflexes, Retinal degeneration, Rigidity, Seizure, Short stature, Spasticity, Status epilepticus, Tremor, Unsteady gait, obsolete Focal seizures, afebril [+]
Mouse (51 sources): Purkinje cell degeneration, abnormal action potential, abnormal atrium endocardium morphology, abnormal auditory brainstem response waveform shape, abnormal cerebellum external granule cell layer morphology, abnormal endplate potential, abnormal eye electrophysiology, abnormal locomotor behavior, abnormal miniature endplate potential, abnormal motor capabilities/coordination/movement, abnormal neuromuscular synapse morphology, abnormal neuron physiology, abnormal pilomotor reflex, abnormal pinna reflex, abnormal spike wave discharge, abnormal ventral spinal root morphology, abnormal voluntary movement, absent pinna reflex, cervical vertebrae degeneration, decreased Purkinje cell number, decreased body size, decreased cerebellar granule cell number, decreased grip strength, decreased locomotor activity, decreased skeletal muscle fiber size, decreased startle reflex, decreased susceptibility to pharmacologically induced seizures, enhanced behavioral response to anesthetic, head tossing, hearing/vestibular/ear phenotype, hindlimb paralysis, hunched posture, impaired balance, impaired limb coordination, increased anxiety-related response, increased or absent threshold for auditory brainstem response, limb grasping, muscle degeneration, muscle phenotype, muscular atrophy, myocardial fiber degeneration, nervous system phenotype, peripheral nervous system degeneration, postnatal lethality, postnatal lethality, complete penetrance, postnatal lethality, incomplete penetrance, premature death, preweaning lethality, incomplete penetrance, skeletal muscle necrosis, small cerebellum, vision/eye phenotype [+]
View all ortholog results at Monarch