Glossary of Terms

Amino acids: Chemical building blocks that combine to form proteins.

Clinician: A person, such as a doctor, nurse, pharmacist, or other healthcare professional, who works directly with patients.

Cognitive: Things related to mental functioning such as learning, memory, thinking, and attention.

Comorbidity: The presence of more than one disease or condition in the same person at the same time. For example, epilepsy and learning difficulties.

De novo: A spontaneous gene alteration that arises in the developing child; not inherited.

DNA: DNA is the hereditary material in humans and most living things. It contains the genetic instructions used in their growth and functioning. DNA is made up of chemical units represented by the letters of the DNA code T, C, G, and A.

Epilepsy: Epilepsy, or the epilepsies, are a group of neurological disorders and distinct syndromes characterized by recurrent seizures.

Exome: The DNA letter code of all a person's genes (refer to genome definition for comparison).

Exome Sequencing: A test to look at the individualized DNA letter code (T, C, G, A) of a person’s exome.

Exons: A DNA sequence within a gene that makes the protein. Genes contain both introns and exons, only exons are included in the protein.

Gene(s): Genes, which are made up of DNA, act as instructions to make proteins. Genes are passed on from parents to their children. In humans, there are approximately 20,000 genes.

GlossaryGenetic Counselor: Genetic counselors are healthcare professionals who help people understand and adapt to the medical, psychological, and familial implications of the genetic contributions to disease.

Genetics: Genetics is a field in biology that studies genes and the inheritance of traits from parents to offspring.

Genome: A living thing’s complete set of DNA, including all of its genes.

Genome Sequencing: A test to look at the entire individualized DNA letter code (T, C, G, A) inside of a person.

Informed Consent: The process of obtaining permission before including a person in a research study. This process involves making sure a person understands the details of the study, what is expected of them and what they can expect in return.

Introns: The part of a gene that does not get made into proteins.

Neuron: A neuron (also known as a nerve cell) is a cell that carries electrical impulses to other neurons and serves as the basic building block of the nervous system.

Neuronal: Related to neurons.

Novel: New; different than anything seen or known before.

Personalized or Precision Medicine: A medical model that proposes the customization of healthcare - with medical decisions, practices, and/or products being tailored to the individual patient.

Protein: Large chemical units made up of amino acids. Proteins perform many functions in living things including making DNA, sending neuronal signals, transporting nutrients. Proteins differ from one another by their amino acid sequence, which is determined by a person’s genes.

Repository: A place where a large amount of something is stored. For example, data stored in a database.

Seizure(s): A seizure is an episode of abnormal electrical activity in the brain. The outward effect can vary from uncontrolled thrashing movements (tonic-clonic seizures) to a brief loss of awareness (absence seizures). These are just two examples of the many types of seizures.

Sequencing: A test that reads every letter in your DNA (genome).

Traits: Characteristics that make each individual unique (e.g. eye color) and are determined by your genes.




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