Personalized gene therapy helps teen with rare form of severe epilepsy walk independently

Дата публикации: 21-07-2026 17:20:03

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. These mutations promote abnormal brain excitability, resulting in uncontrolled seizures along with developmental delays, autism, movement problems and gastrointestinal issues. Most of these mutations are de novo (not inherited from a parent) and arise spontaneously.

Основное содержимое страницы с новостью.

Схожие новости

#	Наименование новости	Тональность	Информативность	Дата публикации
1	Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or classical congenital myopathy.	0	10.01	27-08-2026
2	New drug cuts seizures by up to 91% in children with rare epilepsy	0	8.26	05-03-2026
3	Study identifies new genetic variants that cause rare tumor disorder	0	5.55	27-07-2026
4	How brain cells restore healthy growth and connections after a disease-causing genetic deletion	0	9.14	28-07-2026
5	Vitamin B3 treatment may halt severity of rare genetic disease	0	5.95	28-07-2026
6	Genetic deletions may help explain differences in schizophrenia severity	0	10.36	28-07-2026
7	В Петербурге запустили скрининг новорожденных на редкую болезнь обмена веществ	0	0	30-04-2025
8	Gene therapy for children with sickle cell disease approved by FDA	5	7	08-07-2026
9	Local family raises awareness for rare disorder	0	5	17-07-2026
10	Ученые связали симптомы аутизма с новой генетической мутацией	2	8	23-06-2026

Классификация: . Схожих патентов: 0. Схожих новостей: 10. Тональность: 0. Информативность: 7.6. Источник: medicalxpress.com.