In this study published in Molecular Psychiatry, researchers generated and analyzed Rp58 heterozygous mice as a model of RP58/ZBTB18 haploinsufficiency and were able to clarify the following four ...
This article originally appeared in Knowable Magazine. The seizures started when Samantha Gundel was just four months old. By her first birthday, she was taking a cocktail of three different ...
When brain development gets off to a bad start, the consequences are lifelong. One example is a condition called SCN2A haploinsufficiency, in which children are born with just one functioning copy of ...
Gene dosage mechanisms are required to maintain the expression of haploinsufficient genes properly, which, if misregulated, can lead to many developmental disorders. For the first time, researchers ...
The seizures started when Samantha Gundel was just four months old. By her first birthday, she was taking a cocktail of three different anticonvulsant medicines. A vicious cycle of recurrent pneumonia ...
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