Research – Some genetic mutations that can cause intellectual disability and epilepsy

To read on Research Italy website:

CNR study reveals a molecular mechanism that explains epilepsy and intellectual disability

genetic mutations

A new study coordinated by the Italian researcher Maria Passafaro of the Neuroscience Institute of the National Research Council in Milan (IN-CNR) has revealed some genetic mutations that can cause intellectual disability and epilepsy in children. The study was published in the prestigious scientific journal “Nature Communications”.

The gene under the spotlight is called “Kiaa1202” and contains information to produce “Shrm4” protein, a molecule that is important for having a role in the correct positioning, on the membrane of nervous cells, of the “GabaB” receptor, the target of the major GABA inhibiting neurotransmitter, also known as gamma-aminobutyric acid.

The researchers have measured the electric activity in the hippocampus of lab animals with knockdown of the Shrm4 protein, and observed a reduced inhibition of brain activity, with a consequent increase not only in seizures, but also in anxiety and impairment in learning new information, as well as in psychosocial behaviour.

“The world of research – said the Italian researcher – has always been committed to try and understand the relationship between genetic mutations and the onset of these diseases, and recent studies have shown a relationship between families with these diseases and Kiaa1202 gene mutations: our study provides further contribution to understanding these diseases, with the discovery of the role played by Shrm4 protein”.


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