Episodic Neurologic Disorders: Syndromes, Genes, and Mechanisms

摘要: Many neurologic diseases cause discrete episodic impairment in contrast with progressive deterioration. The symptoms of these disorders exhibit striking variety. Herein we review what is known the phenotypes, genetics, and pathophysiology disorders. Of these, most are genetically complex, unknown or polygenic inheritance. In contrast, a fascinating panoply Mendelian We classify according to primary neuroanatomical location affected: skeletal muscle, cardiac neuromuscular junction, peripheral nerve, central nervous system (CNS). Most mutations alter genes that encode membrane-bound ion channels. These channel dysfunction, which ultimately leads altered membrane excitability as manifested by disease. Other disease proteins essential for trafficking stability. observations have cemented channelopathy paradigm, conceptualized However, expand on this paradigm propose dysfunction at synaptic neuronal circuit levels may underlie some entities.