Epidemiology of self-limited epilepsy with centrotemporal spikes (SeLECTS): A population study using primary care records.

Background And Objective: Information on self-limited epilepsy with centrotemporal spikes (SeLECTS) epidemiology is limited. We aimed to determine the incidence of SeLECTS in children, its association with socioeconomic deprivation and the prevalence of neurodevelopmental comorbidities.

Method: We performed a retrospective cohort study (2004-2017) using anonymised, linked, routinely collected, primary care and demographic data for children in Wales.

Annotation of epilepsy clinic letters for natural language processing.

Background: Natural language processing (NLP) is increasingly being used to extract structured information from unstructured text to assist clinical decision-making and aid healthcare research. The availability of expert-annotated documents for the development and validation of NLP applications is limited. We created synthetic clinical documents to address this, and to validate the Extraction of Epilepsy Clinical Text version 2 (ExECTv2) NLP pipeline.

Assessing the extent and determinants of socioeconomic inequalities in epilepsy in the UK: a systematic review and meta-analysis of evidence.

Background: Socioeconomic inequalities in epilepsy incidence and its adverse outcomes are documented internationally, yet the extent of inequalities and factors influencing the association can differ between countries. A UK public health response to epilepsy, which prevents epilepsy without widening inequalities, is required. However, the data on UK epilepsy inequalities have not been synthesised in a review and the underlying determinants are unknown.

Epilepsy and the risk of COVID-19-related hospitalization and death: A population study.

Objective: People with epilepsy (PWE) may be at an increased risk of severe COVID-19. It is important to characterize this risk to inform PWE and for future health and care planning. We assessed whether PWE were at higher risk of being hospitalized with, or dying from, COVID-19.

Health care utilization and mortality for people with epilepsy during COVID-19: A population study.

Objective: This study was undertaken to characterize changes in health care utilization and mortality for people with epilepsy (PWE) during the COVID-19 pandemic.

Methods: We performed a retrospective study using linked, individual-level, population-scale anonymized health data from the Secure Anonymised Information Linkage databank. We identified PWE living in Wales during the study "pandemic period" (January 1, 2020-June 30, 2021) and during a "prepandemic" period (January 1, 2016-December 31, 2019).

Natural language processing to automate a web-based model of care and modernize skin cancer multidisciplinary team meetings.

Background: Cancer multidisciplinary team (MDT) meetings are under intense pressure to reform given the rapidly rising incidence of cancer and national mandates for protocolized streaming of cases. The aim of this study was to validate a natural language processing (NLP)-based web platform to automate evidence-based MDT decisions for skin cancer with basal cell carcinoma as a use case.

Methods: A novel and validated NLP information extraction model was used to extract perioperative tumour and surgical factors from histopathology reports.

Revisiting basal cell carcinoma clinical margins: Leveraging natural language processing and multivariate analysis with updated Royal College of Pathologists histological reporting standards.

Introduction: Data supporting the current British Association of Dermatologists guidelines for the management of basal cell carcinoma (BCC) are based on historic studies and do not consider the updated Royal College of Pathologists (RCPath) histological reporting standards. The aim of this study was to use natural language processing (NLP)-derived data and undertake a multivariate analysis with updated RCPath standards, providing a contemporary update on the excision margins required to achieve histological clearance in BCC.

Methods: A validated NLP information extraction model was used to perform a rapid multi-centre, pan-specialty, consecutive retrospective analysis of BCCs, managed with surgical excision using a pre-determined clinical margin, over a 17-year period (2004-2021) at Swansea Bay University Health Board.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

Epilepsy genetics: a practical guide for adult neurologists.

An understanding of epilepsy genetics is important for adult neurologists, as making a genetic diagnosis gives clinical benefit. In this review, we describe the key features of different groups of genetic epilepsies. We describe the common available genetic tests for epilepsy, and how to interpret them.

Development and validation of an automated basal cell carcinoma histopathology information extraction system using natural language processing.

Introduction: Routinely collected healthcare data are a powerful research resource, but often lack detailed disease-specific information that is collected in clinical free text such as histopathology reports. We aim to use natural Language Processing (NLP) techniques to extract detailed clinical and pathological information from histopathology reports to enrich routinely collected data.

Methods: We used the general architecture for text engineering (GATE) framework to build an NLP information extraction system using rule-based techniques.

Longitudinal analysis of the relationship between motor and psychiatric symptoms in idiopathic dystonia.

Background And Purpose: Although psychiatric diagnoses are recognized in idiopathic dystonia, no previous studies have examined the temporal relationship between idiopathic dystonia and psychiatric diagnoses at scale. Here, we determine rates of psychiatric diagnoses and psychiatric medication prescription in those diagnosed with idiopathic dystsuponia compared to matched controls.

Methods: A longitudinal population-based cohort study using anonymized electronic health care data in Wales (UK) was conducted to identify individuals with idiopathic dystonia and comorbid psychiatric diagnoses/prescriptions between 1 January 1994 and 31 December 2017.

Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events.

Objective: This study was undertaken to determine whether epilepsy and antiepileptic drugs (including enzyme-inducing and non-enzyme-inducing drugs) are associated with major cardiovascular events using population-level, routinely collected data.

Methods: Using anonymized, routinely collected, health care data in Wales, UK, we performed a retrospective matched cohort study (2003-2017) of adults with epilepsy prescribed an antiepileptic drug. Controls were matched with replacement on age, gender, deprivation quintile, and year of entry into the study.

Incidence, Prevalence, and Health Care Outcomes in Idiopathic Intracranial Hypertension: A Population Study.

Objective: To characterize trends in incidence, prevalence, and health care outcomes in the idiopathic intracranial hypertension (IIH) population in Wales using routinely collected health care data.

Methods: We used and validated primary and secondary care IIH diagnosis codes within the Secure Anonymised Information Linkage databank to ascertain IIH cases and controls in a retrospective cohort study between 2003 and 2017. We recorded body mass index (BMI), deprivation quintile, CSF diversion surgery, and unscheduled hospital admissions in case and control cohorts.

Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy.

Fibroblast growth factor homologous factors (FHFs) are intracellular proteins which regulate voltage-gated sodium (Na) channels in the brain and other tissues. FHF dysfunction has been linked to neurological disorders including epilepsy. Here, we describe two sibling pairs and three unrelated males who presented in infancy with intractable focal seizures and severe developmental delay.

Long-term outcomes after epilepsy surgery, a retrospective cohort study linking patient-reported outcomes and routine healthcare data.

Objective: The objective of the study was to assess the long-term outcomes of epilepsy surgery between 1995 and 2015 in South Wales, UK, linking case note review, postal questionnaire, and routinely collected healthcare data.

Method: We identified patients from a departmental database and collected outcome data from patient case notes, a postal questionnaire, and the QOLIE-31-P and linked with Welsh routinely collected data in the Secure Anonymised Information Linkage (SAIL) databank.

Results: Fifty-seven patients were included.

Chronic inflammatory demyelinating polyneuropathy: a rare cause of falls.

This case of chronic inflammatory demyelinating polyneuropathy (CIDP) shows that a patient's condition can evolve from the point of admission, gradually manifesting its underlying cause. Our patient's initial presentation of backpain and lower limb weakness prompted investigations which ruled out compressive myelopathy and neuropathy. As upper limb weakness developed later, along with a more proximal and symmetrical pattern of lower limb weakness, the clinical picture suggested polyneuropathy.

SUDEP and mortality in epilepsy: The role of routinely collected healthcare data, registries, and health inequalities.

Routinely collected data are a powerful research resource and offer the opportunity to further our understanding of epilepsy mortality and Sudden Unexpected Death in Epilepsy (SUDEP). The advantages of using routinely collected data include that it often covers whole populations, is already collected, and can be easily linked to other data sources. A significant disadvantage is the difficulty in obtaining accurate causes of death and correctly identifying cases of SUDEP.

Using natural language processing to extract structured epilepsy data from unstructured clinic letters: development and validation of the ExECT (extraction of epilepsy clinical text) system.

Objective: Routinely collected healthcare data are a powerful research resource but often lack detailed disease-specific information that is collected in clinical free text, for example, clinic letters. We aim to use natural language processing techniques to extract detailed clinical information from epilepsy clinic letters to enrich routinely collected data.

Design: We used the general architecture for text engineering (GATE) framework to build an information extraction system, ExECT (extraction of epilepsy clinical text), combining rule-based and statistical techniques.

Treatment of psychiatric comorbidities in patients with epilepsy and intellectual disabilities: Is there a role for the neurologist?

This paper will explore the nature of psychiatric co-morbidities in people with an intellectual disability (ID) who have epilepsy. The complexity of clinical presentations and associated co-morbidities require thorough assessment utilising both neurological and psychiatric skills. The neurologist plays a central role in the management of epilepsy in people with ID and therefore requires basic competencies in the assessment of neuropsychiatric co-morbidities.