Home > Neurology > Low levels of a calming brain protein implicated in autism with epilepsy

Low levels of a calming brain protein implicated in autism with epilepsy


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Journal
Neuron
Reuters Health - 27/12/2021 - Low concentrations of a calming brain protein called cntnap2 (nickname, "catnap2") may lead to seizures in children with autism, researchers suggest. The CNTNAP2 gene is known to be mutated in autism with epilepsy. The current study proposes a mechanism that may link the two conditions. "Our model is that the CNTNAP2 ectodomain (the part of the protein that extends into the extracellular space) is part of a natural mechanism through which the brain protects itself from too much activity, or seizures," Dr. Peter Penzes of Northwestern University Feinberg School of Medicine, Chicago, told Reuters Health by email. "When brain cells are too active for some reason, they produce more CNTNAP2 ectodomain, which floats away and binds to other brain cells, to quiet them down." "In patients with mutations in CNTNAP2, such as a famous extended family of Amish people, or Pitt Hopkins-like syndrome 1, or even autism in general, this mechanism ...


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