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Recent studies have shown that mutations in phosphoinositide 3-kinase (PI3K) and AKT (also known as protein kinase B) pathway have been identified in MCAP and MPPH. This pathway has proven to be an integral part of brain growth and development and is an area of interest to many researchers who study the cause of megalencephaly.
Brain mapping can show how an animal's brain changes throughout its lifetime. As of 2021, scientists mapped and compared the whole brains of eight C. elegans worms across their development on the neuronal level [67] [68] and the complete wiring of a single mammalian muscle from birth to adulthood. [37]
Germline mutations can occur before fertilization and during various stages of zygote development. [3] When the mutation arises will determine the effect it has on offspring. If the mutation arises in either the sperm or the oocyte before development, then the mutation will be present in every cell in the individual's body. [4]
The development of the nervous system in humans, or neural development, or neurodevelopment involves the studies of embryology, developmental biology, and neuroscience. These describe the cellular and molecular mechanisms by which the complex nervous system forms in humans, develops during prenatal development , and continues to develop ...
A major section of an organism therefore might carry the same mutation, especially if that mutation occurs at earlier stages of development. [2] Somatic mutations that occur later in an organism's life can be hard to detect, as they may affect only a single cell—for instance, a post- mitotic neuron; [ 3 ] [ 4 ] improvements in single cell ...
Genes involved in the neuro-development and in neuron physiology are extremely conserved between mammalian species (94% of genes expressed in common between humans and chimpanzees, 75% between humans and mice), compared to other organs. Therefore, few genes account for species differences in the human brain development and function. [15]
Lissencephaly (/ ˌ l ɪ s. ɛ n ˈ s ɛ f. ə l. i /, meaning 'smooth brain') [1] is a set of rare brain disorders whereby the whole or parts of the surface of the brain appear smooth. [2] It is caused by defective neuronal migration during the 12th to 24th weeks of gestation, resulting in a lack of development of brain folds and grooves . [3]
A model view of the synapse. Synaptic pruning, a phase in the development of the nervous system, is the process of synapse elimination that occurs between early childhood and the onset of puberty in many mammals, including humans. [1]