New gene discovery unlocks mystery to epilepsy in infants
(Medical Xpress) -- A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.
Jan 16, 2012
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(Medical Xpress) -- A team of Australian researchers has come a step closer to unlocking a mystery that causes epileptic seizures in babies.
Jan 16, 2012
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Paroxysmal kinesigenic choreathetosis (PKC) also called Paroxysmal Kinesigenic Dyskinesia (PKD) is a hyperkinetic movement disorder characterized by attacks of involuntary movements, which are triggered by sudden voluntary movements. The number of attacks can range from up to twenty times per day, to more than twenty times per day, with attacks increasing during puberty and decreasing in a person’s 20's to 30's. Involuntary movements can take many forms such as ballism, chorea or dystonia and usually only affect one side of the body or one limb in particular. This rare disorder only affects about 1 in 150,000 people with PKD accounting for 86.8% of all the types of paroxysmal dyskinesias and occurs more often in males than females. There are two types of PKD, primary and secondary. Primary PKD can be further broken down into familial and sporadic. Familial PKD, which means the individual has a family history of the disorder, is more common, but sporadic cases are also seen. Secondary PKD can be caused by many other medical conditions such as multiple sclerosis (MS), stroke, pseudohypoparathyroidism, hypocalcemia, hypoglycemia, hyperglycemia, central nervous system trauma, or peripheral nervous system trauma. PKD has also been linked with The ICCA Syndrome, in which patients have afebrile seizures as children and then develop paroxysmal choreoathetosis later in life. This phenomenon is actually quite common, with about 42% of individuals with PKD reporting a history of afebrile seizures as a child.
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