2018
Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy
Gomis‐Pérez C, Urrutia J, Marcé‐Grau A, Malo C, López‐Laso E, Felipe‐Rucián A, Raspall‐Chaure M, Macaya A, Villarroel A. Homomeric Kv7.2 current suppression is a common feature in KCNQ2 epileptic encephalopathy. Epilepsia 2018, 60: 139-148. PMID: 30478917, DOI: 10.1111/epi.14609.Peer-Reviewed Original ResearchConceptsKv7.2 channelsDe novo mutantsWild type Kv7.2Dominant-negative behaviorGenotype-phenotype relationshipsGenetic balanceBisphosphate depletionMutantsHomomeric channelsDNA ratioSubunitsKv7.3 subunitsKv7.2Kv7.3Milder phenotypeMutationsM-currentKCNQ2Common featureNeuronal connectionsRescueKv7.2/Kv7.3 channelsPhenotypeKv7.3 channelsCells
2015
Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin
Ambrosino P, Alaimo A, Bartollino S, Manocchio L, De Maria M, Mosca I, Gomis-Perez C, Alberdi A, Scambia G, Lesca G, Villarroel A, Taglialatela M, Soldovieri MV. Epilepsy-causing mutations in Kv7.2 C-terminus affect binding and functional modulation by calmodulin. Biochimica Et Biophysica Acta 2015, 1852: 1856-1866. PMID: 26073431, DOI: 10.1016/j.bbadis.2015.06.012.Peer-Reviewed Original ResearchBenign familial neonatal seizuresKv7.2/Kv7.3 channelsFunctional modulationPatch-clamp recordingsPotential therapeutic approachFamilial neonatal seizuresComplete functional lossNeonatal seizuresEpileptic encephalopathyPathogenetic mechanismsTherapeutic approachesChannel dysfunctionCaM affinityEpilepsy-causing mutationsKv7.3 channelsFunctional lossCaM overexpressionFunctional changesEpileptic diseasePhenotypic presentationChannel subunitsKCNQ2 geneKv7.2Significant alterationsC-terminal fragment