Would you like to contribute to research about rolandic epilepsy? Do you have rolandic epilepsy and are aged between 5 and 18? Are you a parent or carer of a child with rolandic epilepsy? Do you want to make a difference to the rolandic epilepsy community? If so, we need your help. We are looking […]
This booklet is for you if you are a girl or a woman taking any medicine containing valproate. It contains key information about the risks of valproate in pregnancy.
Here you can access the research posters presented by our team at the International Epilepsy Congress 2017 in Barcelona.
Decreased functional connectivity within a language subnetwork in benign epilepsy with centrotemporal spikes
Objective: Benign epilepsy with centrotemporal spikes (BECTS, also known as Rolan- dic epilepsy) is a common epilepsy syndrome that is associated with literacy and lan- guage impairments. The neural mechanisms of the syndrome are not known. The primary objective of this study was to test the hypothesis that functional connectivity within the language network is […]
Previous research shows that children with Rolandic Epilepsy have deficits of auditory processing. We wanted to confirm the nature of this deficit and whether it aggregates in families. We compared 40 children with Rolandic Epilepsy and 32 unaffected siblings with 99 typically developing children and 71 parents of RE children with 31 healthy adults on […]
We thank McGlade et al. for their interest in our recent publication,1 where we identify an association between a PAX6 30 UTR variant rs662702 – whose T allele disrupts the seed region of microRNA-3282,3 – and EEG centrotemporal spikes (CTS) in Rolandic Epilepsy (RE). In their letter to the editor4 they question the evidence for […]
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU
Subtelomeric 1q43q44 microdeletions cause a syndrome associating intellectual disability, microcephaly, seizures and anomalies of the corpus callosum. Despite several previous studies assessing genotype-phenotype correlations, the contribution of genes located in this region to the specific features of this syndrome remains uncertain. Among those, three genes, AKT3, HNRNPU and ZBTB18 are highly expressed in the brain and point mutations in these […]
Epilepsy-associated GRIN2A mutations reduce NMDA receptor trafficking and agonist potency – molecular profiling and functional rescue
Mutations in the N-methyl-D-aspartate receptor (NMDAR) gene GRIN2A cause epilepsy-aphasia syndrome (EAS), a spectrum of epileptic, cognitive and language disorders. Using bioinformatic and patient data we shortlisted 10 diverse missense mutations for characterisation. We used high-throughput calcium-flux assays and patch clamp recordings of transiently transfected HEK-293 cells for electrophysiological characterization, and Western blotting and confocal […]
Epilepsy in patients with GRIN2A alterations: Genetics, neurodevelopment, epileptic phenotype and response to anticonvulsive drugs
Objective: To delineate the genetic, neurodevelopmental and epileptic spectrum associated with GRIN2A alterations with emphasis on epilepsy treatment. Methods: Retrospective study of 19 patients (7 females; age: 1–38 years; mean 10.1 years) with epilepsy and GRIN2A alteration. Genetic variants were classified according to the guidelines and recommendations of the American College of Medical Genetics (ACMG). Clinical findings including epilepsy classification, […]
Mutations in the KIAA2022 gene have been reported in male patients with X-linked intellectual disability, and related female carriers were unaffected. Here, we report 14 female patients who carry a heterozygous de novo KIAA2022 mutation and share a phenotype characterised by intellectual disability and epilepsy. Heterozygous loss of KIAA2022 expression is a cause of intellectual disability […]