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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 ...
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 ...
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 ...
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).
First line therapy for epilepsy involves treatment with anticonvulsive drugs, also called antiepileptic drugs– most patients will respond to trials of one or two different medications. [5] The goal of treatment is the elimination of seizures, since uncontrolled seizures carry significant risks, including injury and sudden unexpected death in ...
Amygdalohippocampectomy is a surgical procedure for the treatment of epilepsy.It consists of the removal of the hippocampus, which has a role in memory, spatial awareness, and navigation, [1] and the amygdalae, which have a role in the processing and memory of emotional reactions, [2] both structures forming part of the limbic system of the brain.
Epilepsy-intellectual disability in females also known as PCDH19 gene-related epilepsy or epileptic encephalopathy, early infantile, 9 (EIEE9), is a rare type of epilepsy that affects predominantly females and is characterized by clusters of brief seizures, which start in infancy or early childhood, and is occasionally accompanied by varying degrees of cognitive impairment.