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Symbol
Name
ID

Scn2a
sodium channel, voltage-gated, type II, alpha
MGI:98248

Phenotype annotations related to nervous system

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
Availability	Mouse Genotype	abnormal brainstem morphology	abnormal nervous system electrophysiology	abnormal action potential	abnormal CNS synaptic transmission	decreased excitatory postsynaptic current frequency	abnormal channel response
	Scn2a^tm1Mml/Scn2a^tm1Mml
	Scn2a^em1Gsp/Scn2a⁺

Contributing Projects: 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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