Personalized gene therapy helps teen with rare form of severe epilepsy walk independently. SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism.
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Trechos de apoio da pauta: SCN2A-related developmental epileptic encephalopathy (DEE) is a rare, severe form of childhood epilepsy and one of the most common causes of monogenic autism. The condition is caused by single mutations in the sodium voltage-gated channel alpha subunit (SCN2A) gene, which controls the flow of sodium ions into neurons.
- Ponto de atenção: personalized.
- Ponto de atenção: gene.
- Ponto de atenção: therapy.
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