Stem cell models reveal how epilepsy genes disrupt different brain regions

 


For families of children with severe epilepsy, controlling seizures is often just the beginning of their challenges. Even in cases where powerful medications can reduce seizures, many children continue to face difficulties with learning, behavior and sleep that can be just as disruptive to daily life.

New stem cell-based research from UCLA, published in Cell Reports, provides an early step toward understanding why  often fall short, pointing to the distinct effects that single disease-causing gene variants can have across different regions of the brain.

The study focuses on developmental and epileptic encephalopathy type 13, or DEE-13, a rare childhood condition caused by certain variants in the SCN8A gene. SCN8A encodes Nav1.6, a sodium channel critical for generating and transmitting electrical signals in neurons. Children with DEE-13 experience frequent seizures as well as , intellectual disability, and .

Using patient-derived induced , the researchers generated advanced models known as 3D assembloids of two key brain areas: the cortex, which is essential for movement and higher-order thinking, and the hippocampus, which supports learning and memory. The results revealed strikingly different effects depending on the brain region.

In cortical models, the SCN8A variants made neurons hyperactive, mimicking seizure activity. In hippocampal models, however, the variants disrupted the brain rhythms associated with learning and memory. This disruption stemmed from a selective loss of specific hippocampal inhibitory neurons—the brain's traffic cops that regulate neural activity.

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