User profiles for W. O. Pickrell
WO PickrellNeurologist and Hon Assoc Professor Swansea University Verified email at swansea.ac.uk Cited by 1796 |
[PDF][PDF] De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies
Epileptic encephalopathies (EEs) are the most clinically important group of severe early-onset
epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …
epilepsies. Next-generation sequencing has highlighted the crucial contribution of de …
[PDF][PDF] Ultra-rare genetic variation in the epilepsies: a whole-exome sequencing study of 17,606 individuals
…, AE Lehesjoki, MI Rees, SK Chung, WO Pickrell… - The American Journal of …, 2019 - cell.com
Sequencing-based studies have identified novel risk genes associated with severe epilepsies
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …
and revealed an excess of rare deleterious variation in less-severe forms of epilepsy. To …
Ultra-rare genetic variation in common epilepsies: a case-control sequencing study
Background Despite progress in understanding the genetics of rare epilepsies, the more
common epilepsies have proven less amenable to traditional gene-discovery analyses. We …
common epilepsies have proven less amenable to traditional gene-discovery analyses. We …
Shared decision-making in epilepsy management
Policy makers, clinicians, and patients increasingly recognize the need for greater patient
involvement in clinical decision-making. Shared decision-making helps address these …
involvement in clinical decision-making. Shared decision-making helps address these …
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 …
idiopathic intracranial hypertension (IIH) population in Wales using routinely collected health …
[HTML][HTML] Human African trypanosomiasis presenting at least 29 years after infection—what can this teach us about the pathogenesis and control of this neglected …
D Sudarshi, S Lawrence, WO Pickrell… - PLoS neglected …, 2014 - journals.plos.org
The World Health Organization (WHO) has recently announced its plan to eliminate Human
African trypanosomiasis (HAT). The plan’s main focus is on the Trypanosoma brucei …
African trypanosomiasis (HAT). The plan’s main focus is on the Trypanosoma brucei …
Epilepsy, antiepileptic drugs, and the risk of major cardiovascular events
…, I Sawhney, J Halcox, R Powell, WO Pickrell - …, 2021 - Wiley Online Library
Objective This study was undertaken to determine whether epilepsy and antiepileptic drugs (including
enzyme‐inducing and non‐enzyme‐inducing drugs) are associated with major …
enzyme‐inducing and non‐enzyme‐inducing drugs) are associated with major …
Epilepsy and deprivation, a data linkage study
Objective To investigate whether the link between epilepsy and deprivation is due to factors
associated with deprivation (social causation) or factors associated with a diagnosis of …
associated with deprivation (social causation) or factors associated with a diagnosis of …
[HTML][HTML] Genome-wide polygenic burden of rare deleterious variants in sudden unexpected death in epilepsy
…, R Ellis, E Reavey, M O'Regan, WO Pickrell… - …, 2015 - thelancet.com
Sudden unexpected death in epilepsy (SUDEP) represents the most severe degree of the
spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature …
spectrum of epilepsy severity and is the commonest cause of epilepsy-related premature …
Weight change associated with antiepileptic drugs
Aim To investigate antiepileptic drug (AED)-related weight changes in patients with epilepsy
through a retrospective observational study. Method We analysed the anonymised …
through a retrospective observational study. Method We analysed the anonymised …