Bilateral Nonsyndromic Sensorineural Hearing Loss Caused by a NARS2 Mutation.

Mitochondrial diseases disrupt the process of energy generation by the mitochondria, leading to manifestations that can affect almost any organ in the body. Although various possible clinical phenotypes can result, neurological and neuromuscular affection is most frequently encountered. NARS2 encodes an enzyme responsible for the conjugation of asparagine to its cognate mitochondrial transfer ribonucleic acid (tRNA) molecule, representing an essential step necessary for effective mitochondrial protein synthesis.

Heterozygous Mutation of Sodium Voltage-Gated Channel Alpha Subunit 2 and Pumilio Homolog 1 Genes in a Pediatric Patient: A Case Report.

Epilepsy is a neurological condition brought on by recurrent and spontaneous seizures in patients with hypersynchronous neuronal ensemble activity. These spontaneous seizures appear to be brought on by increased neuronal excitability and synaptic synchronization. The development of neuronal hyperexcitability and acquiring epilepsy is still poorly understood.

Co-occurrence of Glycogen Storage Disease Type 2 and Congenital Myasthenic Syndrome Type 5 in a Pediatric Patient: A Case Report.

Glycogen storage disease type 2 (also known as Pompe disease) is a metabolic disorder characterized by an accumulation of glycogen within lysosomes. Pathophysiologically, this condition is caused by an autosomal recessive deficiency of the lysosomal acid alpha-glucosidase enzyme, resulting in defects in lysosomal metabolism. Glycogen accumulation causes advanced muscle weakness (myopathy) throughout the body, including the heart, skeletal muscles, liver, and the neurological system.