List of bibliographic references
Number of relevant bibliographic references: 3.
List of associated KwdEn.i
Nombre de documents | Descripteur |
3 | Female |
3 | Humans |
3 | Male |
3 | Pedigree |
2 | Epilepsies, Myoclonic (genetics) |
2 | Epilepsies, Myoclonic (physiopathology) |
2 | Shaw Potassium Channels (genetics) |
1 | Adolescent |
1 | Adult |
1 | Age of Onset |
1 | Alleles |
1 | Amino Acid Sequence |
1 | Amino Acid Substitution |
1 | Animals |
1 | Ataxia (complications) |
1 | Ataxia (diagnostic imaging) |
1 | Ataxia (genetics) |
1 | Ataxia (physiopathology) |
1 | Base Sequence |
1 | Carrier Proteins (genetics) |
1 | Chromosome Mapping |
1 | Chromosomes, Human, Pair 2 |
1 | Cognitive Dysfunction (etiology) |
1 | Conserved Sequence |
1 | Electroencephalography |
1 | Epilepsies, Myoclonic (complications) |
1 | Epilepsies, Myoclonic (diagnostic imaging) |
1 | Exome |
1 | Founder Effect |
1 | Genes, Dominant |
1 | Genetic Heterogeneity |
1 | Genetic Linkage |
1 | Genotype |
1 | HEK293 Cells |
1 | Heat-Shock Proteins (genetics) |
1 | Hot Temperature |
1 | Magnetic Resonance Imaging |
1 | Middle Aged |
1 | Molecular Sequence Data |
1 | Muscle, Smooth (physiopathology) |
1 | Mutation |
1 | Mutation, Missense |
1 | Myoclonic Epilepsies, Progressive (genetics) |
1 | Point Mutation |
1 | Polymorphism, Single Nucleotide |
1 | Prion Proteins |
1 | Prions (genetics) |
1 | Protein Conformation |
1 | Seizures (genetics) |
1 | Seizures (physiopathology) |
1 | Sequence Alignment |
1 | Sequence Homology, Amino Acid |
1 | Shaw Potassium Channels (metabolism) |
1 | Shaw Potassium Channels (physiology) |
1 | Species Specificity |
1 | Syndrome |
1 | Young Adult |
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