MATERIALS AND METHODS: We studied a kindred of familial focal epilepsy with variable foci using whole-exome sequencing. We subsequently studied a cohort of 293 patients with focal epilepsy and sequenced all exons of DEPDC5 using targeted resequencing.
RESULTS: We reported a Taiwanese family with a novel splice site mutation which affected mRNA splicing and activated the downstream mammalian target of rapamycin (mTOR) pathway. Among patients with focal epilepsies, the majority (220/293) of these patients had sporadic focal epilepsy without malformation of cortical development. Two (0.9%) of these patients had probably pathogenic mutations in the DEPDC5 gene.
DISCUSSION AND CONCLUSIONS: Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. Since focal epilepsies account for more than 60% of all epilepsies, the effect of mTORC1 inhibitor on patients with focal epilepsy due to DEPDC5 mutations will be an important future direction of research.
METHODS: We performed a systematic literature review of articles published until May 2022 that reported HZ epidemiology, clinical management, and health economic data in six Southeast Asian countries: Indonesia, Malaysia, the Philippines, Singapore, Thailand, and Vietnam. Literature searches were conducted in Medline, Scopus, Embase, and gray literature. Articles written in English or local languages were considered for inclusion.
RESULTS: In total, 72 publications were included in the study; 22 were case studies and over 60% originated in Singapore and Thailand. Only two studies (data from Thailand) reported incidence of HZ. The proportion of patients reported with HZ was 0.68-0.7% among dermatology clinics, 0.14% at one emergency department (5.3% of dermatology cases) in Singapore, and 3% of admissions at another hospital in Singapore. Pain was the most common symptom associated with HZ, reported in 74.21-100% of patients. HZ complications were reported in 10.2-21.2% of patients, and the proportions with postherpetic neuralgia and HZ ophthalmicus were 6.3-50% and 4.98-28.57%, respectively. Additionally, there is a lack of comprehensive, up-to-date HZ economic data, with only six studies identified for the Philippines, Singapore, and Thailand.
CONCLUSIONS: Overall, there are limited data reporting incidence and prevalence of HZ in Southeast Asia at a national level. High rates of complications, symptoms, and abundance of case reports suggest substantial healthcare resource utilization for patients with HZ and highlight the need for further research in Southeast Asia assessing the societal impact.