2020
Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels
Quraishi IH, Mercier MR, McClure H, Couture RL, Schwartz ML, Lukowski R, Ruth P, Kaczmarek LK. Impaired motor skill learning and altered seizure susceptibility in mice with loss or gain of function of the Kcnt1 gene encoding Slack (KNa1.1) Na+-activated K+ channels. Scientific Reports 2020, 10: 3213. PMID: 32081855, PMCID: PMC7035262, DOI: 10.1038/s41598-020-60028-z.Peer-Reviewed Original ResearchConceptsMaximum electroshock-induced seizuresEpilepsy of infancyPentylenetetrazole-induced seizuresVideo-EEG monitoringElectroshock-induced seizuresForms of epilepsyWild-type miceSlack channelsImpaired motor skillsProcedural motor learningMotor skillsWild-type animalsSevere intellectual disabilityOpen-field behaviorCortical seizuresKCNT1 geneSpontaneous seizuresFocal seizuresSeizure susceptibilitySeizure activityType miceMouse modelAnimal modelsInterictal spikesSeizures
2014
Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R, Consortium T, Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC. Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis. Human Molecular Genetics 2014, 23: 3200-3211. PMID: 24463883, PMCID: PMC4030775, DOI: 10.1093/hmg/ddu030.Peer-Reviewed Original ResearchMeSH KeywordsChildChild, PreschoolChromosomes, Human, Pair 9EpilepsyGenetic Predisposition to DiseaseGenome-Wide Association StudyHigh-Throughput Nucleotide SequencingHumansKCNQ2 Potassium ChannelMaleMembrane ProteinsMutationNAV1.2 Voltage-Gated Sodium ChannelNerve Tissue ProteinsPathology, MolecularPotassium ChannelsPotassium Channels, Sodium-ActivatedProto-Oncogene Proteins c-cblUniparental DisomyYoung AdultConceptsSevere early-onset epilepsyEarly-onset epilepsyOhtahara syndromeMolecular diagnosisWhole-genome sequencingClinical whole-genome sequencingPathogenic de novo mutationsHomozygous missense variantPotassium channel currentsSeizure typesO patientsDiagnostic yieldOS casesPatientsPower of WGSMolecular genetic diagnosisEpilepsyClinical phenotypeClinical diagnosisClinical toolHeterogeneous disorderDevelopmental delayDe novo mutationsDiagnosisMissense variants