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1.
Epilepsy Behav ; : 106462, 2019 Nov 12.
Artigo em Inglês | MEDLINE | ID: mdl-31732329

RESUMO

The bedrock of clinical medicine is effective communication. A generation ago, this was primarily the clinical consultation, the letter to the general practitioner, and the occasional scientific paper. In 2019, the avenues and opportunities for communication have exploded and include a pantheon of new and social media. We review the current state of how doctors use social media, and what can be gained by doing so. We provide strategies about how best to utilize these tools, depending on what you wish to gain. We discuss why every clinician needs a 'social media strategy' even if this is one of increasing your privacy levels and removing incorrect information from the web. We discuss the risks and harms of these newer forms of communication and how best to avoid embarrassment or censure. Social media fills an information vacuum, and in many ways, patients have embraced the opportunities with greater enthusiasm than have clinicians. To 'speak their language', we need to know how best to engage in social media. This article is part of the Special Issue "Epilepsy and Social Media".

2.
Seizure ; 2019 Oct 22.
Artigo em Inglês | MEDLINE | ID: mdl-31706706

RESUMO

In status epilepticus the imperative to start anti-seizure therapy, initially subjugates the need to investigate the cause. Once treatment is initiated this balance shifts in favour of identifying: the causes and consequences of the seizure; the factors that predetermined the occurrence of status epilepticus; and finally the prognosis of this acute episode. Just as there are multiple causes of seizures and epilepsy, there are a vast number of causes of status epilepticus. We discuss the more common and the more important to identify as they may dictate a change in therapy or a certain prognosis. Acknowledging that the burden of epilepsy and status epilepticus is preferentially felt in lower and middle income countries, we have tried to rationalise the investigation of status epilepticus. Basic laboratory studies are necessary in all patients with status epilepticus as systemic complications can occur early and can involve every organ system. Aetiology is important, however the morbidity from treatment does not discriminate when treatment resistant status epilepticus is due to dissociative seizures. Seven percent of epilepsy hospitalisations are for status epilepticus and epilepsy is a prior diagnosis half the time; awareness of prior history is invaluable. EEG is critical for diagnosis in the anaesthetised patient or those in non-convulsive status epilepticus. There is poor correlation of EEG with aetiology except in rare circumstances. Currently quantitative EEG methods should best be viewed as screening tool to reduce EEG reviewing time. MRI is clearly superior for identifying cytotoxic change and the networks that are or were involved in the episode of status epilepticus. Sequential imaging changes may give an estimate of recovery but there is insufficient detail to use MRI as a prognostication tool. We suggest the following model: 1) immediate investigations; 2) investigations targeted by the clinical scenario; 3) investigations targeted following results from bloods, imaging or EEG; 4) investigations targeted for rarer causes and super-refractory status epilepticus.

3.
Epilepsy Behav ; : 106454, 2019 Aug 17.
Artigo em Inglês | MEDLINE | ID: mdl-31431398

RESUMO

The Epilepsy Deaths Register (EDR) differs from typical registries which concentrate primarily on clinical information. It is completed by bereaved relatives and focuses on the circumstances immediately before, and the support following, a death. It can be augmented by copies of death certificates from the families of the deceased, and all epilepsy associated deaths can be entered. The EDR is underpinned by the research and experience of the SUDEP Action team and the clinical advisors who helped design the methodology and the web-based platform. The EDR has been open since 2013 and currently has over 750 entries from over 20 different countries, the majority from the United Kingdom and the Republic of Ireland. The bereaved have shown that they place their trust in the register as a vehicle to be involved in research, even under the most difficult of circumstances. As the EDR matures, we hope to identify the common and rarer patterns of epilepsy-associated death; maintaining our dual ambitions to remain committed to listen, and to make every death count. This paper is for the Special Issue: Prevent 21: SUDEP Summit - Time to Listen.

4.
Pract Neurol ; 19(5): 420-423, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31243140

RESUMO

Niemann-Pick type C is an uncommon neurodegenerative lysosomal storage disorder that can cause a progressive neuropsychiatric syndrome associated with supranuclear vertical gaze palsy and a movement disorder. There have been recent developments in testing that make diagnosis easier and new therapies that aim to stabilise the disease process. A new biochemical test to measure serum cholesterol metabolites supersedes the skin biopsy and is practical and robust. It is treatable with miglustat, a drug that inhibits glycosphingolipid synthesis. We describe a patient, aged 22 years, with juvenile-onset Niemann-Pick type C who presented with seizures and a label of 'cerebral palsy'. We describe the approach to this syndrome in general, and highlight the classical features and red flags that should alert a neurologist to this treatable condition.

5.
Pract Neurol ; 19(4): 282-283, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30948557
6.
Epilepsia ; 60(5): 818-829, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30977115

RESUMO

OBJECTIVE: The true prevalence of epileptic seizures and epilepsy in 22q11.2 deletion syndrome (22q11.2DS) is unknown, because previous studies have relied on historical medical record review. Associations of epilepsy with other neurodevelopmental manifestations (eg, specific psychiatric diagnoses) remain unexplored. METHODS: The primary caregivers of 108 deletion carriers (mean age 13.6 years) and 60 control siblings (mean age 13.1 years) completed a validated epilepsy screening questionnaire. A subsample (n = 44) underwent a second assessment with interview, prolonged electroencephalography (EEG), and medical record and epileptologist review. Intelligence quotient (IQ), psychopathology, and other neurodevelopmental problems were examined using neurocognitive assessment and questionnaire/interview. RESULTS: Eleven percent (12/108) of deletion carriers had an epilepsy diagnosis (controls 0%, P = 0.004). Fifty-seven of the remaining 96 deletion carriers (59.4%) had seizures or seizurelike symptoms (controls 13.3%, 8/60, P < 0.001). A febrile seizure was reported for 24.1% (26/107) of cases (controls 0%, P < 0.001). One deletion carrier with a clinical history of epilepsy was diagnosed with an additional type of unprovoked seizure during the second assessment. One deletion carrier was newly diagnosed with epilepsy, and two more with possible nonmotor absence seizures. A positive screen on the epilepsy questionnaire was more likely in deletion carriers with lower performance IQ (odds ratio [OR] 0.96, P = 0.018), attention-deficit/hyperactivity disorder (ADHD) (OR 3.28, P = 0.021), autism symptoms (OR 3.86, P = 0.004), and indicative motor coordination disorder (OR 4.56, P = 0.021). SIGNIFICANCE: Even when accounting for deletion carriers diagnosed with epilepsy, reports of seizures and seizurelike symptoms are common. These may be "true" epileptic seizures in some cases, which are not recognized during routine clinical care. Febrile seizures were far more common in deletion carriers compared to known population risk. A propensity for seizures in 22q11.2DS was associated with cognitive impairment, psychopathology, and motor coordination problems. Future research is required to determine whether this reflects common neurobiologic risk pathways or is a consequence of recurrent seizures.

7.
Neurology ; 92(11): e1238-e1249, 2019 03 12.
Artigo em Inglês | MEDLINE | ID: mdl-30737342

RESUMO

OBJECTIVE: The aim of this study was to expand the spectrum of epilepsy syndromes related to STX1B, encoding the presynaptic protein syntaxin-1B, and establish genotype-phenotype correlations by identifying further disease-related variants. METHODS: We used next-generation sequencing in the framework of research projects and diagnostic testing. Clinical data and EEGs were reviewed, including already published cases. To estimate the pathogenicity of the variants, we used established and newly developed in silico prediction tools. RESULTS: We describe 17 new variants in STX1B, which are distributed across the whole gene. We discerned 4 different phenotypic groups across the newly identified and previously published patients (49 patients in 23 families): (1) 6 sporadic patients or families (31 affected individuals) with febrile and afebrile seizures with a benign course, generally good drug response, normal development, and without permanent neurologic deficits; (2) 2 patients with genetic generalized epilepsy without febrile seizures and cognitive deficits; (3) 13 patients or families with intractable seizures, developmental regression after seizure onset and additional neuropsychiatric symptoms; (4) 2 patients with focal epilepsy. More often, we found loss-of-function mutations in benign syndromes, whereas missense variants in the SNARE motif of syntaxin-1B were associated with more severe phenotypes. CONCLUSION: These data expand the genetic and phenotypic spectrum of STX1B-related epilepsies to a diverse range of epilepsies that span the International League Against Epilepsy classification. Variants in STX1B are protean and contribute to many different epilepsy phenotypes, similar to SCN1A, the most important gene associated with fever-associated epilepsies.

8.
Neurology ; 91(22): e2078-e2088, 2018 Nov 27.
Artigo em Inglês | MEDLINE | ID: mdl-30413629

RESUMO

OBJECTIVE: To characterize the neurologic phenotypes associated with COL4A1/2 mutations and to seek genotype-phenotype correlation. METHODS: We analyzed clinical, EEG, and neuroimaging data of 44 new and 55 previously reported patients with COL4A1/COL4A2 mutations. RESULTS: Childhood-onset focal seizures, frequently complicated by status epilepticus and resistance to antiepileptic drugs, was the most common phenotype. EEG typically showed focal epileptiform discharges in the context of other abnormalities, including generalized sharp waves or slowing. In 46.4% of new patients with focal seizures, porencephalic cysts on brain MRI colocalized with the area of the focal epileptiform discharges. In patients with porencephalic cysts, brain MRI frequently also showed extensive white matter abnormalities, consistent with the finding of diffuse cerebral disturbance on EEG. Notably, we also identified a subgroup of patients with epilepsy as their main clinical feature, in which brain MRI showed nonspecific findings, in particular periventricular leukoencephalopathy and ventricular asymmetry. Analysis of 15 pedigrees suggested a worsening of the severity of clinical phenotype in succeeding generations, particularly when maternally inherited. Mutations associated with epilepsy were spread across COL4A1 and a clear genotype-phenotype correlation did not emerge. CONCLUSION: COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutations may have important clinical consequences, while for research efforts, omission from large-scale epilepsy sequencing studies of individuals with abnormalities on brain MRI may generate misleading estimates of the genetic contribution to the epilepsies overall.

9.
Pract Neurol ; 18(6): 465-471, 2018 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30337476

RESUMO

Click here to listen to the Podcast The one-third of people who do not gain seizure control through current treatment options need a revolution in epilepsy therapeutics. The general population appears to be showing a fundamental and rapid shift in its opinion regarding cannabis and cannabis-related drugs. It is quite possible that cannabidiol, licensed in the USA for treating rare genetic epilepsies, may open the door for the widespread legalisation of recreational cannabis. It is important that neurologists understand the difference between artisanal cannabidiol products available legally on the high street and the cannabidiol medications that have strong trial evidence. In the UK in 2018 there are multiple high-profile reports of the response of children taking cannabis-derived medication, meaning that neurologists are commonly asked questions about these treatments in clinic. We address what an adult neurologist needs to know now, ahead of the likely licensing of Epidiolex in the UK in 2019.

10.
Seizure ; 60: 1-7, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29857269

RESUMO

PURPOSE: To explore whether complement dysregulation occurs in a routinely recruited clinical cohort of epilepsy patients, and whether complement biomarkers have potential to be used as markers of disease severity and seizure control. METHODS: Plasma samples from 157 epilepsy cases (106 with focal seizures, 46 generalised seizures, 5 unclassified) and 54 controls were analysed. Concentrations of 10 complement analytes (C1q, C3, C4, factor B [FB], terminal complement complex [TCC], iC3b, factor H [FH], Clusterin [Clu], Properdin, C1 Inhibitor [C1Inh] plus C-reactive protein [CRP]) were measured using enzyme linked immunosorbent assay (ELISA). Univariate and multivariate statistical analysis were used to test whether combinations of complement analytes were predictive of epilepsy diagnoses and seizure occurrence. Correlation between number and type of anti-epileptic drugs (AED) and complement analytes was also performed. RESULTS: We found: CONCLUSION: This study adds to evidence implicating complement in pathogenesis of epilepsy and may allow the development of better therapeutics and prognostic markers in the future. Replication in a larger sample set is needed to validate the findings of the study.


Assuntos
Proteínas do Sistema Complemento/metabolismo , Epilepsia/sangue , Biomarcadores/sangue , Humanos , Modelos Logísticos , Análise Multivariada , Estudos Prospectivos , Curva ROC
11.
Clin Med (Lond) ; 18(Suppl 2): s1-s8, 2018 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-29700085

RESUMO

Antiepileptic medications, and valproate principally, are commonly prescribed teratogens. There is significant concern that we are not doing enough to educate clinicians and potential parents about the risks of valproate in pregnancy. There is clear advice from the Medicines and Healthcare products Regulatory Agency and the International League Against Epilepsy about the risks of valproate exposure in utero Reviews and guidelines that are focused on fetal risk, however, fall short in being able to fully replicate the complexity of a real clinical decision. Valproate is certainly life-changing if your child is one of the 10% with a major malformation or 30-40% with a neurodevelopmental disorder, but valproate is also potentially life-saving in the context of ensuring the best possible seizure control for some mothers with epilepsy. There are significant knowledge gaps regarding the risks to mothers who elect to take another drug, or to mother and baby if she comes off medication entirely. We also should be doing more to reduce rates of sudden unexpected death in epilepsy (SUDEP), which is recognised as a key target when evaluating all maternal deaths.

12.
J Neurol Neurosurg Psychiatry ; 89(7): 736-740, 2018 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-29588327

RESUMO

OBJECTIVE: Small prospective studies have identified that children exposed to valproate in utero have poorer scores on cognitive testing. We wanted to identify whether children exposed to antiepileptic drugs (AEDs) in utero have poorer school performance. METHODS: We used anonymised, linked, routinely collected healthcare records to identify children born to mothers with epilepsy. We linked these children to their national attainment Key Stage 1 (KS1) tests in mathematics, language and science at the age of 7 and compared them with matched children born to mothers without epilepsy, and with the national KS1 results. We used the core subject indicator (CSI) as an outcome measure (the proportion of children achieving a minimum standard in all subjects) and the results in individual subjects. RESULTS: We identified 440 children born to mothers with epilepsy with available KS1 results. Compared with a matched control group, fewer children with mothers being prescribed sodium valproate during pregnancy achieved the national minimum standard in CSI (-12.7% less than the control group), mathematics (-12.1%), language (-10.4%) and in science (-12.2%). Even fewer children with mothers being prescribed multiple AEDs during pregnancy achieved a national minimum standard: CSI (by -20.7% less than the control group), mathematics (-21.9%), language (-19.3%) and science (-19.4%). We did not observe any significant difference in children whose mothers were prescribed carbamazepine or were not taking an AED when compared with the control group. CONCLUSIONS: In utero exposure to AEDs in combination, or sodium valproate alone, is associated with a significant decrease in attainment in national educational tests for 7-year-old children compared with both a matched control group and the all-Wales national average. These results give further support to the cognitive and developmental effects of in utero exposure to sodium valproate as well as multiple AEDs, which should be balanced against the need for effective seizure control for women during pregnancy.

13.
Brain ; 141(2): 391-408, 2018 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-29365066

RESUMO

Progressive functional decline in the epilepsies is largely unexplained. We formed the ENIGMA-Epilepsy consortium to understand factors that influence brain measures in epilepsy, pooling data from 24 research centres in 14 countries across Europe, North and South America, Asia, and Australia. Structural brain measures were extracted from MRI brain scans across 2149 individuals with epilepsy, divided into four epilepsy subgroups including idiopathic generalized epilepsies (n =367), mesial temporal lobe epilepsies with hippocampal sclerosis (MTLE; left, n = 415; right, n = 339), and all other epilepsies in aggregate (n = 1026), and compared to 1727 matched healthy controls. We ranked brain structures in order of greatest differences between patients and controls, by meta-analysing effect sizes across 16 subcortical and 68 cortical brain regions. We also tested effects of duration of disease, age at onset, and age-by-diagnosis interactions on structural measures. We observed widespread patterns of altered subcortical volume and reduced cortical grey matter thickness. Compared to controls, all epilepsy groups showed lower volume in the right thalamus (Cohen's d = -0.24 to -0.73; P < 1.49 × 10-4), and lower thickness in the precentral gyri bilaterally (d = -0.34 to -0.52; P < 4.31 × 10-6). Both MTLE subgroups showed profound volume reduction in the ipsilateral hippocampus (d = -1.73 to -1.91, P < 1.4 × 10-19), and lower thickness in extrahippocampal cortical regions, including the precentral and paracentral gyri, compared to controls (d = -0.36 to -0.52; P < 1.49 × 10-4). Thickness differences of the ipsilateral temporopolar, parahippocampal, entorhinal, and fusiform gyri, contralateral pars triangularis, and bilateral precuneus, superior frontal and caudal middle frontal gyri were observed in left, but not right, MTLE (d = -0.29 to -0.54; P < 1.49 × 10-4). Contrastingly, thickness differences of the ipsilateral pars opercularis, and contralateral transverse temporal gyrus, were observed in right, but not left, MTLE (d = -0.27 to -0.51; P < 1.49 × 10-4). Lower subcortical volume and cortical thickness associated with a longer duration of epilepsy in the all-epilepsies, all-other-epilepsies, and right MTLE groups (beta, b < -0.0018; P < 1.49 × 10-4). In the largest neuroimaging study of epilepsy to date, we provide information on the common epilepsies that could not be realistically acquired in any other way. Our study provides a robust ranking of brain measures that can be further targeted for study in genetic and neuropathological studies. This worldwide initiative identifies patterns of shared grey matter reduction across epilepsy syndromes, and distinctive abnormalities between epilepsy syndromes, which inform our understanding of epilepsy as a network disorder, and indicate that certain epilepsy syndromes involve more widespread structural compromise than previously assumed.

14.
Am J Hum Genet ; 101(5): 664-685, 2017 Nov 02.
Artigo em Inglês | MEDLINE | ID: mdl-29100083

RESUMO

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental plateauing or regression associated with frequent epileptiform activity. The cause of DEE remains unknown in the majority of cases. We performed whole-genome sequencing (WGS) in 197 individuals with unexplained DEE and pharmaco-resistant seizures and in their unaffected parents. We focused our attention on de novo mutations (DNMs) and identified candidate genes containing such variants. We sought to identify additional subjects with DNMs in these genes by performing targeted sequencing in another series of individuals with DEE and by mining various sequencing datasets. We also performed meta-analyses to document enrichment of DNMs in candidate genes by leveraging our WGS dataset with those of several DEE and ID series. By combining these strategies, we were able to provide a causal link between DEE and the following genes: NTRK2, GABRB2, CLTC, DHDDS, NUS1, RAB11A, GABBR2, and SNAP25. Overall, we established a molecular diagnosis in 63/197 (32%) individuals in our WGS series. The main cause of DEE in these individuals was de novo point mutations (53/63 solved cases), followed by inherited mutations (6/63 solved cases) and de novo CNVs (4/63 solved cases). De novo missense variants explained a larger proportion of individuals in our series than in other series that were primarily ascertained because of ID. Moreover, these DNMs were more frequently recurrent than those identified in ID series. These observations indicate that the genetic landscape of DEE might be different from that of ID without epilepsy.


Assuntos
Encefalopatias/genética , Epilepsia/genética , Mutação/genética , Criança , Pré-Escolar , Feminino , Genoma Humano/genética , Estudo de Associação Genômica Ampla/métodos , Humanos , Deficiência Intelectual/genética , Masculino , Recidiva , Convulsões/genética
16.
Pract Neurol ; 17(3): 203-206, 2017 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-28473607

RESUMO

Clinicians may not be aware of the specialised methods and adaptations that are used to help people with disabilities to drive a car. We describe a driving assessment process as carried out by one of the UK's flagship assessment centres, including an overview of the available assessments, adaptations and relevant legislation to guide practitioners about how best to signpost and counsel their patients appropriately about driving.


Assuntos
Exame para Habilitação de Motoristas/psicologia , Condução de Veículo/psicologia , Competência Mental , Doenças do Sistema Nervoso/psicologia , Humanos , Doenças do Sistema Nervoso/fisiopatologia
17.
Seizure ; 44: 232-236, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-27773556

RESUMO

Sudden unexpected death in epilepsy (SUDEP) is the leading cause of mortality in patients with refractory epilepsy, and as such has been a major research focus over the last 25 years. The earliest SUDEP research papers were published in Seizure, as have scores of SUDEP papers since. In this review we discuss the efforts to try and describe the pathophysiological basis of SUDEP, the drive to discover the clinical risk factors that increase the likelihood of SUDEP, and the motivation to increase awareness of SUDEP. These three areas are the prime factors that, when answered, will allow us to better mitigate against SUDEP and help individuals monitor their personal risk. The field has benefited from strong definitions, multinational collaboration, the use of cutting edge genetic analysis, and ensuring that bereaved families are able to take part in research when this is appropriate. Clearly there is much that we do not know and yet, has any area of epilepsy research come so far in the last 25 years?


Assuntos
Morte Súbita/epidemiologia , Epilepsia , Epilepsia/epidemiologia , Epilepsia/história , Epilepsia/mortalidade , História do Século XX , História do Século XXI , Humanos , Fatores de Risco
19.
Mol Syndromol ; 7(4): 239-246, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27781034

RESUMO

Prompted by the observations of juvenile myoclonic epilepsy (JME) in 22q11.2 deletion syndrome (22q11DS) and recurrent copy number variants in genetic generalized epilepsy (GGE), we searched for further evidence supporting a possible correlation of 22q11DS with GGE and with myoclonic seizures. Through routine diagnostics, we identified 3 novel individuals with the seemingly uncommon combination of 22q11DS and JME. We subsequently screened the literature for reports focussing on the epilepsy phenotype in 22q11DS. We additionally screened a database of 173 22q11DS patients and identified a fourth individual with JME as well as 2 additional cases with GGE. We describe 6 novel and 22 published cases with co-occurrence of 22q11DS and GGE. In many patients, GGE was associated with myoclonic seizures allowing for a diagnosis of JME in at least 6 individuals. Seventeen of the 173 22q11DS cases (10%) had a diagnosis of either focal or generalized epilepsy. In these cases, focal epilepsy could often be attributed to syndrome-associated hypocalcaemia, cerebral bleeds, or structural brain anomalies. However, the cause of GGE remained unclear. In this study, we describe and review 28 individuals with 22q11DS and GGE (especially JME), showing that both disorders frequently co-occur. Compared to the reported prevalence of 15-21%, in our case series only 10% of 22q11DS individuals were found to have epilepsy, often GGE. Since 22q11.2 does not contain convincing GGE candidate genes, we discuss the possibility of an aetiological correlation through a possibly disturbed interaction with the GABAB receptor.

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