Aim: Epilepsy is a common neurological disorder characterized by recurrent seizures. We performed epigenetic analyses between and within 15 monozygotic (MZ) twin pairs discordant for focal or generalized epilepsy. Methods: DNA methylation analysis was performed using Illumina Infinium MethylationEPIC arrays, in blood and buccal samples. Results: Differentially methylated regions between epilepsy types associated with PM20D1 and GFPT2 genes in both tissues. Within MZ discordant twin pairs, differentially methylated regions associated with OTX1 and ARID5B genes for generalized epilepsy and TTC39C and DLX5 genes for focal epilepsy. Conclusion: This is the first epigenome-wide association study, utilizing the discordant MZ co-twin model, to deepen our understanding of the neurobiology of epilepsy.

Paragangliomas are rare neuroendocrine neoplasms which are often catecholamine-secreting and associated with familial syndromes. Described here are three women with a variety of pathology: isolated secretory paraganglioma diagnosed in pregnancy, secretory metastatic paraganglioma in pregnancy and non-secretory metastatic paraganglioma in pregnancy. Whilst paragangliomas are associated with morbidity and mortality during pregnancy, good maternal and fetal outcomes can be achieved through individualised care within the context of a multidisciplinary team. Although paragangliomas are associated with morbidity and mortality in pregnancy, good maternal and fetal outcomes can be achieved through individualised care within the context of a multidisciplinary team.

No abstract