kcnq2 Phenotypes

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Phenotypes

Gene Literature (90)

Nucleotides (114)

Interactants (135)

XB-GENEPAGE-6047372

Gene Symbol: kcnq2 Gene Name: potassium channel, voltage gated KQT-like subfamily Q, member 2

Expression Phenotypes Gene expression phenotype annotations where the gene of interest has been disrupted (manipulated) or is the gene assayed (assayed). Computed annotations are derived from differential expression analysis from Xenbase processed GEO data with the criteria of a TPM >= 1, FDR <= 0.05 and an absolute LogFC >= 2.
Computed annotations: kcnq2 assayed (1 source)

Monarch Ortholog Phenotypes These phenotypes are associated with this gene with a has phenotype relation via Monarch.
Human (46 sources): Abnormal cerebral white matter morphology, Abnormal globus pallidus morphology, Abnormality of movement, Abnormality of the orbital region, Abnormality of vision, Apnea, Bilateral tonic-clonic seizure, Cerebral atrophy, Cerebral edema, Choreoathetosis, Cognitive impairment, Deeply set eye, Dysesthesia, Dyskinesia, Dysphasia, Dystonia, EEG with burst suppression, Epileptic encephalopathy, Epileptic spasm, Facial erythema, Fatigue, Febrile seizure (within the age range of 3 months to 6 years), Feeding difficulties, Focal clonic seizure, Generalized hypotonia, Generalized tonic seizure, Global developmental delay, Hallucinations, Hypoplasia of the corpus callosum, Hypotonia, Hypsarrhythmia, Inability to walk, Intellectual disability, Memory impairment, Migraine, Motor delay, Myoclonus, Myokymia, Nausea and vomiting, Pallor, Poor gross motor coordination, Profound global developmental delay, Reduced consciousness/confusion, Seizure, Spastic tetraparesis, Spasticity [+]
Mouse (24 sources): abnormal action potential, abnormal afterhyperpolarization, abnormal brain wave pattern, abnormal neuron physiology, abnormal primary motor cortex morphology, abnormal seizure response to electrical stimulation, abnormal somatosensory cortex morphology, behavior/neurological phenotype, clonic seizures, decreased body size, decreased exploration in new environment, decreased prepulse inhibition, impaired spatial learning, increased corpus callosum size, increased superior colliculus size, increased susceptibility to pharmacologically induced seizures, neonatal lethality, complete penetrance, neonatal lethality, incomplete penetrance, nervous system phenotype, postnatal lethality, incomplete penetrance, premature death, prenatal lethality, incomplete penetrance, preweaning lethality, incomplete penetrance, reproductive system phenotype [+]
View all ortholog results at Monarch