Epilepsy is defined as a diverse set of neurological disorders characterized by seizures. These seizures occur due to abnormal electrical activity in the brain. Factors that may lead to epilepsy include, but are not limited to, brain trauma, gene mutations, strokes, brain cancer, and extensive drug and alcohol use. Seizures occur due to a large release of glutamate, which causes a spread of excitation throughout the brain, which propagates the electrical signal and can lead to neuronal death. Pyridoxine-dependent epilepsy is a condition that involves seizures beginning in infancy. Mutations in the ALDH7A1 gene cause pyridoxine-dependent epilepsy, which is inherited in an autosomal recessive manner. Patients typically experience seizures lasting several minutes. These seizures involve muscle rigidity, convulsions, and loss of consciousness. Pyridoxine-dependent epilepsy also includes side effects such as low body temperature, poor muscle tone, and irritability before a seizure episode. About 50 million people have epilepsy, with 80% of that population located in developing countries. It is possible to control epilepsy with medicine, but many cases may require surgery in order to relieve symptoms.
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