Epilepsy genetics: clinical impacts and biological insights
Genomics now has an increasingly important role in neurology clinics. Regarding the
epilepsies, innovations centred around technology, analytics, and collaboration have led to …
epilepsies, innovations centred around technology, analytics, and collaboration have led to …
Assessing the landscape of STXBP1-related disorders in 534 individuals
Disease-causing variants in STXBP1 are among the most common genetic causes of
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is …
neurodevelopmental disorders. However, the phenotypic spectrum in STXBP1-related disorders is …
[PDF][PDF] A recurrent missense variant in AP2M1 impairs clathrin-mediated endocytosis and causes developmental and epileptic encephalopathy
…, M Pendziwiat, A Rademacher, CA Ellis… - The American Journal of …, 2019 - cell.com
The developmental and epileptic encephalopathies (DEEs) are heterogeneous disorders
with a strong genetic contribution, but the underlying genetic etiology remains unknown in a …
with a strong genetic contribution, but the underlying genetic etiology remains unknown in a …
What lies beneath? A time‐varying FAVAR model for the UK transmission mechanism
We use a time‐varying factor‐augmented VAR to investigate changes in the transmission
mechanism of economic shocks in the UK. Our estimates demonstrate the importance of time …
mechanism of economic shocks in the UK. Our estimates demonstrate the importance of time …
[HTML][HTML] Computational analysis of 10,860 phenotypic annotations in individuals with SCN2A-related disorders
Purpose Pathogenic variants in SCN2A cause a wide range of neurodevelopmental
phenotypes. Reports of genotype–phenotype correlations are often anecdotal, and the available …
phenotypes. Reports of genotype–phenotype correlations are often anecdotal, and the available …
Timing is everything: where status epilepticus treatment fails
Status epilepticus is an emergency; however, prompt treatment of patients with status
epilepticus is challenging. Clinical trials, such as the ESETT (Established Status Epilepticus …
epilepticus is challenging. Clinical trials, such as the ESETT (Established Status Epilepticus …
Extracting seizure frequency from epilepsy clinic notes: a machine reading approach to natural language processing
Objective Seizure frequency and seizure freedom are among the most important outcome
measures for patients with epilepsy. In this study, we aimed to automatically extract this clinical …
measures for patients with epilepsy. In this study, we aimed to automatically extract this clinical …
[HTML][HTML] Reinforcing or disrupting gender affirmation: the impact of cancer on transgender embodiment and identity
There is a pressing need for greater understanding and focus on cancer survivorship and
informal cancer caring of trans people (binary and non-binary), across tumor types, to inform …
informal cancer caring of trans people (binary and non-binary), across tumor types, to inform …
Natural history study of STXBP1-developmental and epileptic encephalopathy into adulthood
…, J Christensen, B Dalla Bernardina, CA Ellis… - Neurology, 2022 - AAN Enterprises
Background and Objectives Pathogenic STXBP1 variants cause a severe early-onset
developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural …
developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural …
Long‐term epilepsy outcome dynamics revealed by natural language processing of clinic notes
Objective Electronic medical records allow for retrospective clinical research with large
patient cohorts. However, epilepsy outcomes are often contained in free text notes that are …
patient cohorts. However, epilepsy outcomes are often contained in free text notes that are …