hes1-protein--human and Developmental-Disabilities

The progress made in the understanding of the genetics of human brain malformations has lead to insight into the formation of brain and into mechanisms of disease affecting brain. It bears upon neurologists and geneticists to recognize the patterns of diseases of brain formation, to properly diagnose such disorders, to assess the recurrence risk of these malformations, and to guide families with appropriate expectations for outcomes. This article may serve as a guide to neurologists in their approach to these disorders. Because this area is one of rapid progress, the clinician is advised to seek more current information that may be available through on-line databases and other sources.

Topics: 1-Alkyl-2-acetylglycerophosphocholine Esterase; Basic Helix-Loop-Helix Transcription Factors; Brain; Brain Diseases; Cell Adhesion Molecules, Neuronal; Child; Contractile Proteins; Developmental Disabilities; Extracellular Matrix Proteins; Fetal Diseases; Filamins; Homeodomain Proteins; Humans; Magnetic Resonance Imaging; Membrane Proteins; Microfilament Proteins; Microtubule-Associated Proteins; Nerve Tissue Proteins; Point Mutation; Proteins; Reelin Protein; Serine Endopeptidases; Transcription Factor HES-1