What is a sodium channel mutation?

What is a sodium channel mutation?

Children with mutations in SCN1A, a sodium channel that works in neurons that dampen brain activity, have a severe form of epilepsy called Dravet syndrome and, sometimes, autism. In a study published in December, researchers found a mutation in another sodium channel gene, called SCN9A, in one individual with autism.

What is periodic paralysis?

Periodic paralysis (PP) is a rare genetic disorder. It causes sudden attacks of short-term muscle weakness, stiffness, or paralysis. These attacks may affect the whole body or just 1 or 2 limbs. There are several different forms of PP.

What is sodium channel disease?

Skeletal muscle Na+ channel disorders are non-dystrophic and consist of myotonia which presents as an increased muscular activity causing muscle stiffness, and periodic paralysis which presents as a decrease in muscle activity causing transient weakness or paralysis of the muscle.

What channel causes paralysis?

Mutations of the potassium and calcium channel genes cause periodic paralysis of the same type (Andersen-Tawil syndrome or hypokalemic periodic paralysis). In contrast, distinct mutations in the muscle sodium channel gene are responsible for all different types of periodic paralyses (hyper-, normo-, and hypokalemic).

What is SCN1A mutation?

SCN1A is the major gene for Dravet Syndrome, a severe epilepsy of childhood most prominently characterized by fever-induced seizures.

What is the best treatment for paralysis?

How is paralysis treated?

  • Physical therapy uses treatments such as heat, massage, and exercise to stimulate nerves and muscles.
  • Occupational therapy concentrates on ways to perform activities of daily living.
  • Mobility aids include manual and electric wheelchairs and scooters.

What are early signs of paralysis?

Causes of paralysis

  • sudden weakness on one side of the face, with arm weakness or slurred speech – a stroke or transient ischaemic attack (TIA or “mini-stroke”)
  • sudden weakness on one side of the face, with earache or face pain – Bell’s palsy.
  • temporary paralysis when waking up or falling asleep – sleep paralysis.

Are there any known mutations in hypokalemic periodic paralysis?

Genetic diagnosis is often unreliable as only a few of the more common gene locations are tested, but even with more extensive testing 20–37% of people with a clinical diagnosis of hypokalemic periodic paralysis have no known mutation in the two known genes.

Why do I have periodic episodes of paralysis?

This disease is caused by defects in a potassium channel normally present in skeletal and cardiac muscles. Mutations in this potassium channel gene interfere with the ability of a muscle to stay poised and ready to contract. As a result, periodic episodes of paralysis may occur, and the heartbeat can become irregular.

What is the difference between periodic paralysis and hyperkalemic?

In contrast, hyperkalemic periodic paralysis refers to gain-of-function mutations in sodium channels that maintain muscle depolarisation and therefore are aggravated by high potassium ion concentrations.

How does a mutation in SCN4A affect the nervous system?

In patients with mutations in SCN4A or CACNA1S, therefore, the channel has a reduced excitability and signals from the central nervous system are unable to depolarise the muscle. As a result, the muscle cannot contract efficiently (paralysis).

What is a sodium channel mutation? Children with mutations in SCN1A, a sodium channel that works in neurons that dampen brain activity, have a severe form of epilepsy called Dravet syndrome and, sometimes, autism. In a study published in December, researchers found a mutation in another sodium channel gene, called SCN9A, in one individual with…