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Pyridoxine-dependent epilepsy (PDE) is a rare genetic disorder characterized by intractable seizures in the prenatal and neonatal period. The disorder was first recognized in the 1950s, with the first description provided by Hunt et al. in 1954.
Pyridoxine (PN) [4] is a form of vitamin B 6 found commonly in food and used as a dietary supplement. As a supplement it is used to treat and prevent pyridoxine deficiency , sideroblastic anaemia , pyridoxine-dependent epilepsy , certain metabolic disorders , side effects or complications of isoniazid use, and certain types of mushroom ...
First gained approval in the US in 2012 for the treatment of drug resistant focal epilepsy in patients 12 years and older. It is an antagonist at AMPA receptors with a dosing range from 4-12 mg/day. It is primarily used as an adjunctive treatment option and at higher doses is associated with adverse symptoms like dizziness, ataxias, and ...
The vagus nerve stimulator is a device that can be implanted into patients with epilepsy, especially that which originates from a specific part of the brain. However, both of these treatment options can cause severe adverse effects. Additionally, while seizure frequency typically decreases, they often do not stop entirely. [40] [41]
Syndromes are characterized into 4 groups based on epilepsy type: [1] a. Generalized onset epilepsy syndromes. These epilepsy syndromes have only generalized-onset seizures and include both the idiopathic generalized epilepsies (specifically childhood absence epilepsy, juvenile absence epilepsy, juvenile myoclonic epilepsy and epilepsy with generalized tonic- clonic seizures alone), as well as ...
Epilepsy refers to a group of chronic neurological disorders that are characterized by seizures, affecting over 50 million people, or 0.4–1% of the global population. [3] [4] There is a basic understanding of the pathophysiology of epilepsy, especially of forms characterized by the onset of seizures from a specific area of the brain (partial-onset epilepsy).
This page was last edited on 4 February 2009, at 05:26 (UTC).; Text is available under the Creative Commons Attribution-ShareAlike 4.0 License; additional terms may apply.
Generalized epilepsy with febrile seizures plus (GEFS+) is a syndromic autosomal dominant disorder where affected individuals can exhibit numerous epilepsy phenotypes. [1] GEFS+ can persist beyond early childhood (i.e., 6 years of age).
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