Question

Carola has suffered from epilepsy since child. Recently, she learned she has mutations in certain genes that control the K⁺ channels in neurons. Her doctor thinks these mutations are related to her epilepsy. How would non-functional or poorly functioning K⁺ channels be causing epileptic events?

Answer 1

ANSWER) EPILEPSY - A disorder in which nerve cell activity in the brain is disturbed, causing seizures.

Epilepsy may occur as a result of a genetic disorder or an acquired brain injury, such as a trauma or stroke.

• All biological cells have K channels; they are crucial for all transmembrane transport mechanisms.
• Certain types of early-onset epilepsy are caused by unknown mutations of a potassium channel gene, KCNA2.
• It regulates the flow of potassium ions by opening and shutting, thereby also regulating the electrical excitability of the neurons in the brain.
• The mutations disrupt the ion channel's function either by cutting the flow of potassium, leading to a loss of function
• Or increasing potassium flow, leading to an excess gain of function.
• Due to uncontrolled flow of K+ ions, the memberane potential and excitability of neurons are altered and can cause epileptic events.