Juvenile Myoclonic Epilepsy (JME) is a prevalent form of generalized epilepsy, predominantly affecting adolescents and young adults. It is characterized by myoclonic seizures, grand mal seizures, and abnormal electroencephalogram (EEG) findings. Though the exact etiology remains unclear, genetic factors, particularly mutations in ion channels and neurotransmitter receptors, play a crucial role in its pathogenesis. The condition is marked by an imbalance between excitatory and inhibitory signaling in the brain, involving neurotransmitters such as glutamate and gamma-aminobutyric acid (GABA). This imbalance leads to neuronal hyperexcitability, with excessive synchronization of neuronal firing resulting in seizures. Additionally, mutations in genes like GABRA1, CACNB4, and EFHC1 are associated with altered synaptic transmission and calcium signaling, further contributing to the pathophysiology of JME. The primary treatment for JME involves antiepileptic drugs (AEDs), which aim to restore the excitatory-inhibitory balance. These drugs function by modulating ion channels, enhancing GABAergic inhibition, and blocking glutamate receptors. By stabilizing neuronal activity, AEDs reduce the occurrence of seizures and improve the quality of life for patients. This paper provides a brief overview of the neurological mechanisms underlying JME and the role of AEDs in its management.
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