Title : Kv7.3 Compound Heterozygous Variants in Early Onset Encephalopathy Reveal Additive Contribution of C-Terminal Residues to PIP2-Dependent K+ Channel Gating.

Pub. Date : 2018 Aug

PMID : 29383681






4 Functional Relationships(s)
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1 Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. Phosphatidylinositol 4,5-Diphosphate potassium voltage-gated channel subfamily Q member 2 Homo sapiens
2 Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. Phosphatidylinositol 4,5-Diphosphate potassium voltage-gated channel subfamily Q member 2 Homo sapiens
3 Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. Phosphatidylinositol 4,5-Diphosphate potassium voltage-gated channel subfamily Q member 2 Homo sapiens
4 Over one hundred mutations in the Kv7.2 (KCNQ2) gene encoding for phosphatidylinositol 4,5-bisphosphate (PIP2)-sensitive voltage-gated K+ channel subunits have been identified in early-onset epilepsies with wide phenotypic variability. Phosphatidylinositol 4,5-Diphosphate potassium voltage-gated channel subfamily Q member 2 Homo sapiens