Jul 14, 2025 · 5 min read · 1. Introduction Prader–Willi Syndrome (PWS) is a rare genetic disorder resulting from the lack of expression of paternally inherited genes in the 15q11–q13 chromosomal region. Clinically, it is characterized by neonatal hypotonia, hyperphagia, obesit...
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Jul 12, 2025 · 5 min read · Introduction Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by the progressive degeneration of upper and lower motor neurons. Despite extensive research, the etiology of ALS remains multifactorial and incomplet...
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Jun 9, 2025 · 6 min read · Introduction Autism Spectrum Disorder (ASD) is a neurodevelopmental condition defined by difficulties in communication, social interaction, and the presence of repetitive behaviors. While ASD's exact origins remain complex and multifaceted, growing r...
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Jun 5, 2025 · 5 min read · Introduction Rapid industrialization and urban development have significantly increased environmental pollution levels, particularly in urban areas. Air pollution is a complex mixture of gases (like ozone, nitrogen dioxide, carbon monoxide) and parti...
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Apr 19, 2025 · 4 min read · SLC6A1 encodes the gamma-aminobutyric acid (GABA) transporter type 1 (GAT1), a crucial component of inhibitory neurotransmission. Pathogenic variants in SLC6A1 lead to neurological disorders, primarily epilepsy, developmental delay, and neuropsychiat...
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Mar 5, 2025 · 5 min read · Introduction Spinal Muscular Atrophy (SMA) is a severe neurodegenerative disorder that predominantly affects motor neurons, resulting in progressive muscle weakness and atrophy. The condition is caused by mutations in the survival motor neuron 1 (SMN...
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