PHOSPHATASE AND TENSIN HOMOLOG (PTEN) VARIANTS AND EPILEPSY: A MULTICENTER CASE SERIES

Phosphatase and tensin homolog (PTEN), is a gene localized on chromosome 10q23.31, first identified as a tumor suppressor gene [1]. PTEN, through its lipid phosphatase motif, is known to be an inhibitor of the PI3K/AKT/mTOR signalling pathway, involved in cell growth, proliferation, and differentiation. Specifically, in the central nervous system (CNS), PTEN and its pivotal regulatory cascade influence brain development during cell migration, neurite outgrowth, synaptogenesis, and myelination [2] [3].

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