Search results for "KCNQ"

showing 3 items of 13 documents

A novel KCNQ3 mutation in familial epilepsy with focal seizures and intellectual disability

2015

Mutations in the KCNQ2 gene encoding for voltage-gated potassium channel subunits have been found in patients affected with early onset epilepsies with wide phenotypic heterogeneity, ranging from benign familial neonatal seizures (BFNS) to epileptic encephalopathy with cognitive impairment, drug resistance, and characteristic electroencephalography (EEG) and neuroradiologic features. By contrast, only few KCNQ3 mutations have been rarely described, mostly in patients with typical BFNS. We report clinical, genetic, and functional data from a family in which early onset epilepsy and neurocognitive deficits segregated with a novel mutation in KCNQ3 (c.989G>T; p.R330L). Electrophysiological stu…

MaleGenotype-phenotype correlationmedicine.medical_specialtyNeurologyBenign familial neonatal seizuresMutantGenotype-phenotype correlationsmedicine.disease_causeMutagenesiKCNQ3 Potassium ChannelEpilepsyKCNQBenign Familial Neonatal Seizures KCNQ cognitive impairment voltage-gated potassium channels epilepsy mutagenesis genotype-phenotype correlationsSeizuresSettore M-PSI/08 - Psicologia ClinicaIntellectual DisabilityIntellectual disabilitymedicineHumansKCNQ2 Potassium ChannelVoltage-gated potassium channelBenign familial neonatal seizuresGenetic Predisposition to DiseaseGenetic TestingChildGenetic testingGeneticsMutationEpilepsymedicine.diagnostic_testGenetic heterogeneitybusiness.industryMedicine (all)Benign familial neonatal seizures; Cognitive impairment; Epilepsy; Genotype-phenotype correlations; KCNQ; Mutagenesis; Voltage-gated potassium channels; Child; Female; Genetic Testing; Humans; Intellectual Disability; KCNQ2 Potassium Channel; KCNQ3 Potassium Channel; Male; Mutation; Pedigree; Seizures; Genetic Predisposition to Disease; Neurology (clinical); Neurology; Medicine (all)Benign familial neonatal seizuremedicine.diseaseSeizureSettore MED/39 - Neuropsichiatria InfantilePedigreeCognitive impairmentNeurologyMutagenesisMutationFemaleNeurology (clinical)businessVoltage-gated potassium channelsHuman
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Immunohistochemical analysis of KCNQ2 potassium channels in adult and developing mouse brain

2005

The syndrome of benign familial neonatal convulsions (BFNC) is characterized by seizures starting within the first days of life and disappearing within weeks to months. BFNC is caused by loss-of-function mutations in the potassium channels KCNQ2 and KCNQ3 which can well explain the resulting neuronal hyperexcitability. However, it is not understood why seizures predominantly occur in the neonatal period. A potential explanation might be a change in the expression pattern of these channels during development. We therefore performed an immunohistochemical analysis of mouse brain slices at different stages of postnatal development using an antibody recognizing the C-terminus of the KCNQ2 chann…

Mossy fiber (hippocampus)medicine.medical_specialtyThalamusCentral nervous systemHippocampusBiologyHippocampal formationHippocampusMidbrainMiceEpilepsyInternal medicineNeural PathwaysmedicineAnimalsKCNQ2 Potassium ChannelTissue DistributionMolecular BiologyGeneral NeuroscienceBrainGene Expression Regulation Developmentalmedicine.diseaseImmunohistochemistryAxonsMice Inbred C57BLGlobus pallidusEndocrinologymedicine.anatomical_structurenervous systemMossy Fibers HippocampalNeurology (clinical)Developmental BiologyBrain Research
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Immunohistochemical analysis of KCNQ3 potassium channels in mouse brain.

2005

KCNQ-type potassium channels generate the so-called M-current regulating excitability in many neurons. Mutations in KCNQ2/KCNQ3 channels can cause benign familial neonatal convulsions (BFNC). We describe the immunohistochemical staining of adult and developing mouse brain using an antibody directed against the N-terminus of KCNQ3 channels (KCNQ3N). A widespread KCNQ3N immunoreactivity predominantly of neuropil but also of somata was detected in different regions of the adult mouse brain, in particular in the hippocampus, cortex, thalamus and cerebellum. This staining pattern appeared gradually and became more intense during development. In the pyramidal cell layer of the hippocampus, the im…

medicine.medical_specialtyCerebellumPathologyCentral nervous systemThalamusBlotting WesternHippocampusBiologyKCNQ3 Potassium ChannelMiceCortex (anatomy)Internal medicinemedicineNeuropilAnimalsGeneral NeuroscienceBrainGene Expression Regulation DevelopmentalImmunohistochemistryPotassium channelMice Inbred C57BLEndocrinologymedicine.anatomical_structureParvalbuminsnervous systemAnimals Newbornsense organsPyramidal cellNeuroscience letters
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