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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 ...
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]
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).
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 ...
Approved by the FDA in 2019 for treatment of epilepsy in adults, Cenobamate is primarily used to treat patients with focal onset seizures. The mechanism of action of this drug is unclear, but is likely related to the inactivation of Na Channels and action as a GABA modulator. The dosing range for this drug is anywhere from 100-400 mg with a ...
Epilepsy most often occurs at the extremes of life – in childhood or in very old age – but can develop at any time throughout one's life. Although these seizures are usually due to large, acute brain lesions resulting from strokes in adults and focal cortical inflammatory processes in children ( Rasmussen's encephalitis ), possibly caused ...
This gene provides instructions for making a protein (cyclin-dependent kinase-like 5) that is essential for normal brain development and function. [4] The CDKL5 protein is widely expressed in the brain, predominantly in nerve cells ( neurons ), with roles in cell proliferation , neuronal migration , axonal outgrowth, dendritic morphogenesis ...