Symbol Name ID |
Kcnc2
potassium voltage gated channel, Shaw-related subfamily, member 2 MGI:96668 |
Darker colors indicate more annotations |
Human Phenotypes | Drooling |
Spastic tetraplegia |
Opisthotonus |
Delayed CNS myelination |
Arachnoid cyst |
Ataxia |
Eyelid myoclonus |
Continuous spike and waves during slow sleep |
EEG with burst suppression |
EEG with polyspike wave complexes |
Hypsarrhythmia |
Absent speech |
Aphasia |
Autistic behavior |
Hyperactivity |
Intellectual disability |
Intellectual disability, severe |
Epileptic encephalopathy |
Severe global developmental delay |
Bilateral tonic-clonic seizure |
Focal impaired awareness seizure |
Generalized non-motor (absence) seizure |
Atonic seizure |
Epileptic spasm |
Myoclonic seizure |
Tonic seizure |
Tonic status epilepticus |
Disease(s) Associated with KCNC2 | |||||||||||||||||||||||||||
developmental and epileptic encephalopathy 103 |
Mouse Phenotypes | increased susceptibility to pharmacologically induced seizures |
seizures |
myoclonus |
tonic-clonic seizures |
sporadic seizures |
abnormal nervous system electrophysiology |
abnormal action potential |
abnormal afterhyperpolarization |
abnormal brain wave pattern |
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Availability | Mouse Genotype | |||||||||
Kcnc2tm1Rudy/Kcnc2tm1Rudy |
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 05/14/2024 MGI 6.23 |
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