Symbol Name ID |
Scn2a
sodium channel, voltage-gated, type II, alpha MGI:98248 |
Darker colors indicate more annotations |
Human Phenotypes | Spastic tetraplegia |
Global brain atrophy |
Normal interictal EEG |
Autism |
Intellectual disability, severe |
Hyperkinetic movements |
Epileptic encephalopathy |
Neurodevelopmental abnormality |
Global developmental delay |
Severe global developmental delay |
Bilateral tonic-clonic seizure |
Bilateral tonic-clonic seizure with focal onset |
Focal impaired awareness seizure |
Status epilepticus |
Disease(s) Associated with SCN2A | ||||||||||||||
benign familial infantile seizures 3 | ||||||||||||||
developmental and epileptic encephalopathy 11 |
Mouse Phenotypes | abnormal brainstem morphology |
abnormal nervous system electrophysiology |
abnormal action potential |
abnormal CNS synaptic transmission |
decreased excitatory postsynaptic current frequency |
abnormal channel response |
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Availability | Mouse Genotype | ||||||
Scn2atm1Mml/Scn2atm1Mml | |||||||
Scn2aem1Gsp/Scn2a+ |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 09/03/2024 MGI 6.24 |
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