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This means that the chromosome abnormality that occurs in the individual was not inherited from ones biological parents. If the biological parents are tested, they would not be found to have the abnormal chromosome identified in the offspring.

This technique for studying the electrical current within the brain. EEG is an abbreviation for electroencephalogram. Electrodes are attached to the scalp. Wires attach these electrodes to a machine which records the electrical impulses. The results that are displayed on a computer screen can be printed out. Different patterns of electrical impulses can denote various problems in the brain including different forms of epilepsy. Some EEG’s are conducted for a few hours and some for a few days. Depending on the goal of the EEG, data may be collected to see how the electrical impulses of the brain look when an individual is awake and asleep. Some individuals will be monitored with an EEG after sleep deprivation.

Uncontrolled electrical activity in the brain that may cause the body to physically convulse.  There are several types of seizures including Absence Seizures (Petit Mal), Myoclonic, Tonic and Atonic (Drop Attacks) and Tonic-Clonic seizures (formally called Grand Mal seizures). 

Epilepsy occurs when the neurons of the brain (nerve cells) fire electrical impulses at a rate of up to four times higher than normal.  This causes an “electrical storm” and to stop the activity, the brain seizes, interrupting normal brain activity.  Medication can be used to regulate the rate of electrical impulses in an attempt to stop seizure activity. 

A gene is a very small structure inside almost every cell of the body.  They carry the instructions, or blueprints, that tell our body how to grow, develop, and function in terms of building necessary proteins.  These instructions result in developing the individuals characteristics such as eye color, height and blood type.  There are approximately 35,000 genes in the human body. 

The chromosomal complement of an individual, including the number of chromosomes and any abnormalities.  The term is also used to refer to a photograph of an individual’s chromosomes. 

This is an educational session to learn about genes, genetic conditions, heredity, and how genes are passed from one generation to another causing genetic risks for specific conditions.  Genetic counseling can explain how some conditions are de novo.  Genetic counseling is an opportunity to learn about a genetic diagnosis, the meaning of a specific mutation and to ask questions that pertain to treatment and management of a specific condition. 

Genotype describes the genetic make-up of an individual, not their outward characteristics.  A phenotype is observable traits of an individual such as their eye color, height, weight, or the presence or absence of a condition such as intellectual impairments. 

A condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch.  The HYPER relates to too much tension. 

A condition marked by an abnormal decrease in muscle tension and an increase ability of the muscle to be floppy and stretch.  The HYPO relates to not enough tension.

MRI is an abbreviation for magnetic resonance imaging.  This is a radiology scan technique that uses magnetism, radio waves, and a computer to produce images of body structures.  The individual is placed in a very large circular tube and inserted into a magnet.  The magnet creates a strong magnetic field that combines with beams of radio waves that produces a signal that can be detected by the receiver portion of the MRI scanner.  The image is translated by a computer.  The resulting image can detect tiny changes and structures within the body.

KCNA2 was identified through genetic testing in about 2015. Research about this potassium channel related gene is in its infancy.  However, in the past two decades, research about the seizures and epilepsy in general has evolved.  In that time, many separate organizations have been formed that focus on rare genetic mutations that cause seizures.  Collectively, these groups are referred to as RARE epilepsies.  As awareness increases about KCNA2, so will research leading to effective treatments.

This means that the chromosome abnormality that occurs in the individual was not inherited from ones biological parents. If the biological parents are tested, they would not be found to have the abnormal chromosome identified in the offspring.

This technique for studying the electrical current within the brain. EEG is an abbreviation for electroencephalogram. Electrodes are attached to the scalp. Wires attach these electrodes to a machine which records the electrical impulses. The results that are displayed on a computer screen can be printed out. Different patterns of electrical impulses can denote various problems in the brain including different forms of epilepsy. Some EEG’s are conducted for a few hours and some for a few days. Depending on the goal of the EEG, data may be collected to see how the electrical impulses of the brain look when an individual is awake and asleep. Some individuals will be monitored with an EEG after sleep deprivation.

Uncontrolled electrical activity in the brain that may cause the body to physically convulse.  There are several types of seizures including Absence Seizures (Petit Mal), Myoclonic, Tonic and Atonic (Drop Attacks) and Tonic-Clonic seizures (formally called Grand Mal seizures). 

Epilepsy occurs when the neurons of the brain (nerve cells) fire electrical impulses at a rate of up to four times higher than normal.  This causes an “electrical storm” and to stop the activity, the brain seizes, interrupting normal brain activity.  Medication can be used to regulate the rate of electrical impulses in an attempt to stop seizure activity. 

A gene is a very small structure inside almost every cell of the body.  They carry the instructions, or blueprints, that tell our body how to grow, develop, and function in terms of building necessary proteins.  These instructions result in developing the individuals characteristics such as eye color, height and blood type.  There are approximately 35,000 genes in the human body. 

The chromosomal complement of an individual, including the number of chromosomes and any abnormalities.  The term is also used to refer to a photograph of an individual’s chromosomes. 

This is an educational session to learn about genes, genetic conditions, heredity, and how genes are passed from one generation to another causing genetic risks for specific conditions.  Genetic counseling can explain how some conditions are de novo.  Genetic counseling is an opportunity to learn about a genetic diagnosis, the meaning of a specific mutation and to ask questions that pertain to treatment and management of a specific condition. 

Genotype describes the genetic make-up of an individual, not their outward characteristics.  A phenotype is observable traits of an individual such as their eye color, height, weight, or the presence or absence of a condition such as intellectual impairments. 

A condition marked by an abnormal increase in muscle tension and a reduced ability of a muscle to stretch.  The HYPER relates to too much tension. 

A condition marked by an abnormal decrease in muscle tension and an increase ability of the muscle to be floppy and stretch.  The HYPO relates to not enough tension.

MRI is an abbreviation for magnetic resonance imaging.  This is a radiology scan technique that uses magnetism, radio waves, and a computer to produce images of body structures.  The individual is placed in a very large circular tube and inserted into a magnet.  The magnet creates a strong magnetic field that combines with beams of radio waves that produces a signal that can be detected by the receiver portion of the MRI scanner.  The image is translated by a computer.  The resulting image can detect tiny changes and structures within the body.

KCNA2 was identified through genetic testing in about 2015. Research about this potassium channel related gene is in its infancy.  However, in the past two decades, research about the seizures and epilepsy in general has evolved.  In that time, many separate organizations have been formed that focus on rare genetic mutations that cause seizures.  Collectively, these groups are referred to as RARE epilepsies.  As awareness increases about KCNA2, so will research leading to effective treatments.