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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 poisoning. [5]
Folinic acid is also used in the treatment of cerebral folate deficiency, a syndrome in which the use of folic acid cannot normalize cerebrospinal fluid levels of 5-MTHF. [12] In pyridoxine-dependent epilepsy, folinic acid may be used as additional therapy if pyridoxine or pyridoxal phosphate fails to fully control the seizures. [13]
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 ...
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 ...
Former NBA star Nate Robinson underwent a kidney transplant on Feb. 7 after he was diagnosed with kidney disease in 2006.
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 ...
Two separate search warrants in July and October also led to the seizure of more than 30 kilograms of ketamine, 600 grams of MDMA, and over 100 pounds of cannabis, according to the DA’s office.
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