Loss of 2 genes that repress mechanistic Target of Rapamycin (mTOR), a growth-promoting pathway, causes autism and epilepsy. Excessive excitation of neurons was assumed to be the culprit. However, a study published in the February 2014 issue of The Frontiers in Molecular Neuroscience adds a new twist.
A study by Nakamura et al, published in the September 2013 issue of Neurology explores the association between SCN2A mutations and severe forms of early onset epileptic encephalopathies (EOEE).
A recent study published in the Annals of Neurology by Dr. Lennart Mucke’s team at the Gladstone Institute of Neurological Disease in the University of California at San Francisco demonstrates that genetic ablation of tau in a mouse model of Dravet syndrome reverses most of the symptoms.
Migrating partial seizures of infancy (MPSI) is a severe epilepsy syndrome that affects infants within the first six months of birth. It is characterized by focal seizures that originate from various regions in the brain, migrate to other regions and evolve into near-continuous episodes.
Inducing seizures in young mice leads them to show autism-like social deficits, as well as problems with learning and memory, according to a paper published in Experimental Neurology.
Researchers at the University of California, San Diego School of Medicine have discovered a fundamental mechanism by which the brain maintains its internal balance.