Heterozygous missense mutation of the RELN gene is one of the causes of epilepsy.

OBJECTIVES: Genetic factors play an important role in the onset of epilepsy, and the involvement of the RELN gene was recently discovered. This paper reports a family with a history of epilepsy caused by a heterozygous missense mutation in the RELN gene. METHODS: After a clear diagnosis was made in the proband with a family history of epilepsy, gene sequencing was performed on the proband and his family members. RESULTS: The proband was a 19-year-old male who presented with general convulsions during sleep lasting for about 1 min and was relieved spontaneously. His father and grandmother also experienced seizures. The gene sequencing results of the proband, his mother, and his grandmother showed that both the proband and his grandmother carried the same heterozygous missense mutation in the RELN gene (c.7909 C > T), unlike the proband's mother. DISCUSSION: Mutations in the RELN gene can lead to the occurrence of benign epilepsy, though the specific type of seizures that it can cause is still unclear, and may increase the susceptibility to epilepsy. In addition, it may have potential anticancer effects.

Attitudes to Being Vaccinated Against COVID-19: A Survey of People With Epilepsy in China.

Objective: We conducted a survey to assess vaccination coverage, vaccination willingness, and variables associated with vaccination hesitancy to provide evidence on coronavirus disease (COVID-19) vaccination strategies. Methods: This anonymous questionnaire study conducted a multicenter, cross-sectional survey of outpatients and inpatients with epilepsy (PWE) registered in epilepsy clinics, in 2021, in 10 hospitals in seven cities of Shandong Province. Results: A total of 600 questionnaires were distributed, and 557 valid questionnaires were returned. A total of 130 people were vaccinated against COVID-19. Among 427 unvaccinated participants, 69.32% (296/427) were willing to receive the COVID-19 vaccine in the future, and the remaining 30.68% (131/427) were unwilling to receive vaccination. Most (89.9%) of the participants believed that the role of vaccination was crucial in response to the spread of COVID-19. A significant association was found between willingness to receive the COVID-19 vaccine and the following variables: age, marital status, level of education, occupation, residence, seizure type, and seizure control after antiepileptic drug therapy. It is noteworthy that education level, living in urban areas, and seizure freedom were significantly related to willingness to receive COVID-19 vaccination. Conclusions: Vaccination is a key measure for the prevention and control of COVID-19, and most PWE are willing to be vaccinated. Vaccine safety, effectiveness, and accessibility are essential in combatting vaccine hesitation and increasing vaccination rates.