Neurogenetics – Case Report Collection 2022

Neurogenetics – Case Report Collection 2022 by Huifang Shang presents a curated compilation of real-world case reports that illuminate the diverse and complex clinical presentations of genetic neurological disorders. Designed for clinicians, trainees, and researchers in neurology, neurogenetics, and related disciplines, this volume emphasizes diagnostic reasoning, evidence-informed interpretation, and clinical decision-making. Each case highlights not only the genetic and phenotypic complexity of neurogenetic conditions but also practical lessons that enhance understanding of genotype–phenotype correlations, diagnostic pathways, and therapeutic considerations. The collection reflects contemporary advances in genomic medicine and offers rare insights into conditions that challenge conventional diagnostic paradigms.

Key Features

• Comprehensive case-based approach showcasing a broad range of neurogenetic disorders
• Focus on clinical reasoning and diagnostics, with detailed workups and genetic interpretations
• Real-world patient cases illustrating phenotype variability, diagnostic dilemmas, and management strategies
• Integration of current genetic testing technologies and interpretation frameworks
• Educational value for multidisciplinary teams, including neurologists, geneticists, pediatricians, and trainees
• Bridges clinical practice and genomic science, deepening understanding of neurogenetic conditions