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The project was sparked by a deeply personal connection to Adam, an eight-year-old Israeli boy diagnosed with GRIN2D-DEE.
By Shula Rosen
In a major medical breakthrough, Israeli researchers at Tel Aviv University have developed a mouse model that could lead to life-changing treatments for GRIN2D-related encephalopathy—a severe and ultra-rare genetic disorder affecting just 40 people worldwide.
GRIN2D-related DEE (developmental and epileptic encephalopathy) is a devastating condition that appears in infancy. Caused by mutations in the GRIN2D gene, it disrupts normal brain development and function. Children with this disorder suffer from intense seizures, severe delays in motor and cognitive skills, and often cannot walk or speak. In many cases, the condition leads to early death. Because it is so rare, little has been known about how it progresses until now.
The Tel Aviv University team, led by Professors Moran Rubinstein and Karen Avraham, introduced the same genetic mutation found in human patients into mice. “This model allows us to observe the disease in real time and test potential treatments,” said Prof. Rubinstein. The project was sparked by a deeply personal connection to Adam, an 8-year-old Israeli boy diagnosed with GRIN2D-DEE.
“Meeting the researchers gave us a sense of hope we hadn’t felt before,” said Adam’s mother, Eden Maimon Benet. “They didn’t just take on a study—they took on a mission to help our son.”
At first, the mice carrying the mutation didn’t survive beyond infancy, highlighting the severity of the disease. Eventually, the team developed a viable model showing symptoms that closely mirror those seen in human patients, including seizures, hyperactivity, and cognitive decline.
The researchers then tested both existing and experimental drugs. High doses of ketamine worsened symptoms, but other medications—like memantine and phenytoin—showed promise in improving brain function and survival.
“This model is a critical step forward,” said Prof. Rubinstein. “It gives us a powerful tool to understand the disease and move toward real treatments—not just for GRIN2D, but potentially for other neurodevelopmental disorders as well.”
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