Mutations in scn5a. Medical search. Frequent questions

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Anatomy12

Suprachiasmatic Nucleus Cell Line COS Cells Cells, Cultured HEK293 Cells X Chromosome Neurons Fibroblasts HeLa Cells Cell Line, Tumor CHO Cells Cell Nucleus

Organisms14

Escherichia coli Saccharomyces cerevisiae Cricetinae Mice, Mutant Strains Mice, Transgenic Mice, Inbred C57BL Cercopithecus aethiops Drosophila melanogaster Mice, Knockout Drosophila HIV-1 Animals, Genetically Modified Zebrafish Mesocricetus

Diseases24

Syndrome Brugada Syndrome Epilepsies, Myoclonic Genetic Predisposition to Disease Long QT Syndrome Genetic Diseases, X-Linked Pain Insensitivity, Congenital Retinitis Pigmentosa Abnormalities, Multiple Eye Abnormalities Seizures, Febrile Disease Models, Animal Epilepsy, Generalized Chromosome Deletion Genetic Diseases, Inborn Osteochondrodysplasias Deafness Intellectual Disability Mitochondrial Diseases Arrhythmias, Cardiac Colorectal Neoplasms Hearing Loss, Sensorineural Breast Neoplasms Cell Transformation, Neoplastic

Chemicals and Drugs73

NAV1.5 Voltage-Gated Sodium Channel Sodium Channels NAV1.1 Voltage-Gated Sodium Channel Codon, Nonsense Voltage-Gated Sodium Channel beta-1 Subunit DNA Primers NAV1.6 Voltage-Gated Sodium Channel Codon DNA-Binding Proteins Transcription Factors Mutant Proteins DNA NAV1.2 Voltage-Gated Sodium Channel Nuclear Proteins Membrane Proteins Bacterial Proteins RNA, Messenger Voltage-Gated Sodium Channel beta-3 Subunit DNA, Mitochondrial Proto-Oncogene Proteins B-raf NAV1.7 Voltage-Gated Sodium Channel Carrier Proteins DNA, Neoplasm Eye Proteins Recombinant Proteins Nerve Tissue Proteins RNA Splice Sites Mutagens Proteins Proto-Oncogene Proteins Saccharomyces cerevisiae Proteins Ethylnitrosourea Recombinant Fusion Proteins Repressor Proteins Tumor Suppressor Protein p53 DNA, Complementary Drosophila Proteins BRCA2 Protein Fungal Proteins ras Proteins Escherichia coli Proteins Trans-Activators Genetic Markers DNA, Bacterial DNA Transposable Elements Cell Cycle Proteins Muscle Proteins Arginine Codon, Terminator Alanine Ethyl Methanesulfonate Protein-Serine-Threonine Kinases Adenosine Triphosphatases Glycine Homeodomain Proteins Tumor Suppressor Proteins Neoplasm Proteins NAV1.3 Voltage-Gated Sodium Channel Mexiletine Cysteine Protein Subunits BRCA1 Protein Adaptor Proteins, Signal Transducing Serine HIV Reverse Transcriptase Cystic Fibrosis Transmembrane Conductance Regulator Membrane Transport Proteins Cytoskeletal Proteins KCNQ1 Potassium Channel Thiocyanates DNA Gyrase MutS Homolog 2 Protein ARNTL Transcription Factors

Analytical, Diagnostic and Therapeutic Techniques and Equipment28

Pedigree Amino Acid Substitution DNA Mutational Analysis Polymerase Chain Reaction Mutagenesis, Site-Directed Sequence Analysis, DNA Genetic Testing Models, Molecular Chromosome Mapping Genetic Complementation Test Cloning, Molecular Sequence Alignment Transfection Models, Genetic Heterozygote Detection Mutagenesis, Insertional Crosses, Genetic Reverse Transcriptase Polymerase Chain Reaction Restriction Mapping Immunohistochemistry Genetic Association Studies Models, Biological Blotting, Western Disease Models, Animal Patch-Clamp Techniques Case-Control Studies Blotting, Southern Gene Knock-In Techniques

Psychiatry and Psychology2

Family Intellectual Disability

Phenomena and Processes106

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Mutation Rate Exons Heterozygote Base Sequence Amino Acid Substitution Alleles Polymorphism, Single-Stranded Conformational Genotype Amino Acid Sequence Codon, Nonsense Homozygote Mutagenesis Genes, Recessive Circadian Rhythm Phenotype Sequence Deletion Genes, Dominant Protein Structure, Tertiary Suppression, Genetic Codon Binding Sites Sequence Homology, Amino Acid Genetic Predisposition to Disease Gene Deletion Founder Effect Genes, p53 Genetic Linkage Protein Binding Consanguinity Transfection Polymorphism, Genetic Plasmids Genes, Lethal Transcription, Genetic Genetic Variation Gene Frequency Exome Biological Clocks Promoter Regions, Genetic Genes, BRCA1 Mutagenesis, Insertional Introns Protein Conformation Genes, Bacterial Signal Transduction Kinetics Structure-Activity Relationship Penetrance Recombination, Genetic Microsatellite Repeats Drug Resistance, Viral Conserved Sequence Genes Genes, Suppressor Gene Expression Regulation Temperature RNA Splice Sites Photoperiod Polymorphism, Single Nucleotide Polymorphism, Restriction Fragment Length INDEL Mutation Gene Expression RNA Splicing Genes, BRCA2 Evolution, Molecular Selection, Genetic Genes, Fungal Protein Structure, Secondary DNA Repair Genetic Markers Genetic Heterogeneity DNA Transposable Elements Mosaicism Phosphorylation Circadian Clocks Drug Resistance, Microbial Time Factors Amino Acid Motifs Alternative Splicing Protein Transport Loss of Heterozygosity X Chromosome Codon, Terminator Gene Expression Regulation, Bacterial Drug Resistance Chromosome Deletion Virus Replication Ion Channel Gating Light Genes, APC Phylogeny Nucleic Acid Conformation Gene Expression Regulation, Developmental Sequence Homology, Nucleic Acid Operon Ultraviolet Rays Genes, Regulator Darkness Dimerization Protein Folding Species Specificity

Disciplines and Occupations1

Immunohistochemistry

Anthropology, Education, Sociology and Social Phenomena1

Information Science4

Base Sequence Molecular Sequence Data Amino Acid Sequence Phylogeny

Named Groups3

Jews Asian Continental Ancestry Group Infant, Newborn

Health Care6

Genetic Testing Family Health Age of Onset Temperature Case-Control Studies Ultraviolet Rays

Anatomy Organisms Diseases Chemicals and Drugs Analytical, Diagnostic and Therapeutic Techniques and Equipment Phenomena and Processes Disciplines and Occupations Information Science Named Groups Health Care

Point Mutation Mutation, Missense Mutation Frameshift Mutation Germ-Line Mutation Suprachiasmatic Nucleus Pedigree NAV1.5 Voltage-Gated Sodium Channel Mutation Rate Exons Heterozygote Base Sequence Amino Acid Substitution DNA Mutational Analysis Sodium Channels NAV1.1 Voltage-Gated Sodium Channel Molecular Sequence Data Polymerase Chain Reaction Alleles Polymorphism, Single-Stranded Conformational Mutagenesis, Site-Directed Genotype Amino Acid Sequence Codon, Nonsense Homozygote Sequence Analysis, DNA Mutagenesis Voltage-Gated Sodium Channel beta-1 Subunit Genes, Recessive Circadian Rhythm Genetic Testing Phenotype Sequence Deletion Genes, Dominant DNA Primers Protein Structure, Tertiary NAV1.6 Voltage-Gated Sodium Channel Syndrome Cell Line Escherichia coli Suppression, Genetic Models, Molecular Chromosome Mapping Brugada Syndrome Codon Binding Sites Sequence Homology, Amino Acid Epilepsies, Myoclonic DNA-Binding Proteins Transcription Factors Genetic Predisposition to Disease Genetic Complementation Test Gene Deletion Cloning, Molecular Founder Effect Genes, p53 Sequence Alignment Genetic Linkage Mutant Proteins DNA Protein Binding NAV1.2 Voltage-Gated Sodium Channel Nuclear Proteins Consanguinity Membrane Proteins Transfection Saccharomyces cerevisiae Models, Genetic Bacterial Proteins Family Health Polymorphism, Genetic Plasmids Genes, Lethal RNA, Messenger Heterozygote Detection Transcription, Genetic Long QT Syndrome Genetic Variation Gene Frequency Voltage-Gated Sodium Channel beta-3 Subunit Exome DNA, Mitochondrial Biological Clocks Proto-Oncogene Proteins B-raf NAV1.7 Voltage-Gated Sodium Channel Promoter Regions, Genetic Genes, BRCA1 Mutagenesis, Insertional Introns Carrier Proteins DNA, Neoplasm Protein Conformation Genes, Bacterial Age of Onset Signal Transduction Kinetics Eye Proteins Recombinant Proteins Structure-Activity Relationship Penetrance

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