Germ-Line MutationMutation, MissenseMutationLi-Fraumeni SyndromeDNA Mutational AnalysisPedigreePoint MutationHeterozygotePolymerase Chain ReactionGenes, p53Base SequenceGenetic Predisposition to DiseaseMolecular Sequence DataFrameshift MutationMicrosatellite RepeatsExomeGenotypeMutation RateBreast NeoplasmsExonsCell LineAllelesGerm CellsSequence Analysis, DNAAmino Acid SequenceAmino Acid SubstitutionPhenotypePolymorphism, Single-Stranded ConformationalSpasms, InfantileSequence DeletionSpermatogenesisNeoplasms, Germ Cell and EmbryonalMosaicismIntellectual DisabilityGenes, DominantGenes, RecessiveSyndromeCell Line, TumorGenetic TestingHeterozygote DetectionDNA-Binding ProteinsDNAHomozygoteFamily HealthGenetic Diseases, X-LinkedMutagenesis, Site-DirectedMutagenesisNAV1.2 Voltage-Gated Sodium ChannelPaternal AgeEpilepsies, MyoclonicGene DeletionX ChromosomeModels, GeneticDNA PrimersCodon, NonsensePaternityEpilepsy, Benign NeonatalSpermatozoaAbnormalities, MultipleRNA, MessengerChromosome MappingGenetic VariationGenetic LinkageTestisTranscription FactorsProtein Structure, TertiaryCloning, MolecularFaciesSequence Homology, Amino AcidPolymorphism, GeneticAutistic DisorderTranscription, GeneticIntronsGenetic HeterogeneityBinding SitesModels, MolecularGene FrequencyCaenorhabditis elegansEscherichia coliDrosophila melanogasterGonadsGenes, DevelopmentalCodonSequence AlignmentTransfectionSuppression, GeneticPromoter Regions, GeneticProtein BindingNuclear ProteinsChild Development Disorders, PervasiveGenetic Complementation TestMembrane ProteinsWheat Germ AgglutininsCrosses, GeneticPlasmidsGene Expression Regulation, DevelopmentalCell Line, TransformedOogenesisAge of OnsetSignal Transduction