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Epilepsia 2007Epileptic psychoses reflect a fundamental disruption in the fidelity of mind and occur during seizure freedom or during or after seizures. The psychotic symptoms in... (Review)
Review
Epileptic psychoses reflect a fundamental disruption in the fidelity of mind and occur during seizure freedom or during or after seizures. The psychotic symptoms in epilepsy share some qualities with schizophrenic psychosis, such as positive symptoms of paranoid delusions and hallucinations. Psychotic syndromes in epilepsy are most common but not exclusively associated with temporal lobe epilepsy. De Novo psychosis following epilepsy surgery is rare. Forced normalization-psychosis associated with dramatic reduction of epileptiform activity or seizures is described in small series only. Ictal and postictal psychosis can be prevented with seizure control, but postictal and chronic interictal psychoses require multidisciplinary and psychopharmacologic management.
Topics: Chronic Disease; Combined Modality Therapy; Comorbidity; Epilepsy; Epilepsy, Temporal Lobe; Health Status; Humans; Patient Care Team; Psychotic Disorders; Treatment Outcome
PubMed: 18047594
DOI: 10.1111/j.1528-1167.2007.01394.x -
British Medical Journal (Clinical... Apr 1982
Topics: Child; Child, Preschool; Diagnosis, Differential; Epilepsies, Myoclonic; Epilepsies, Partial; Epilepsy; Epilepsy, Absence; Epilepsy, Tonic-Clonic; Humans; Infant
PubMed: 6803925
DOI: 10.1136/bmj.284.6324.1247 -
Brain : a Journal of Neurology Nov 2022Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with...
Brain voltage-gated sodium channel NaV1.1 (SCN1A) loss-of-function variants cause the severe epilepsy Dravet syndrome, as well as milder phenotypes associated with genetic epilepsy with febrile seizures plus. Gain of function SCN1A variants are associated with familial hemiplegic migraine type 3. Novel SCN1A-related phenotypes have been described including early infantile developmental and epileptic encephalopathy with movement disorder, and more recently neonatal presentations with arthrogryposis. Here we describe the clinical, genetic and functional evaluation of affected individuals. Thirty-five patients were ascertained via an international collaborative network using a structured clinical questionnaire and from the literature. We performed whole-cell voltage-clamp electrophysiological recordings comparing sodium channels containing wild-type versus variant NaV1.1 subunits. Findings were related to Dravet syndrome and familial hemiplegic migraine type 3 variants. We identified three distinct clinical presentations differing by age at onset and presence of arthrogryposis and/or movement disorder. The most severely affected infants (n = 13) presented with congenital arthrogryposis, neonatal onset epilepsy in the first 3 days of life, tonic seizures and apnoeas, accompanied by a significant movement disorder and profound intellectual disability. Twenty-one patients presented later, between 2 weeks and 3 months of age, with a severe early infantile developmental and epileptic encephalopathy and a movement disorder. One patient presented after 3 months with developmental and epileptic encephalopathy only. Associated SCN1A variants cluster in regions of channel inactivation associated with gain of function, different to Dravet syndrome variants (odds ratio = 17.8; confidence interval = 5.4-69.3; P = 1.3 × 10-7). Functional studies of both epilepsy and familial hemiplegic migraine type 3 variants reveal alterations of gating properties in keeping with neuronal hyperexcitability. While epilepsy variants result in a moderate increase in action current amplitude consistent with mild gain of function, familial hemiplegic migraine type 3 variants induce a larger effect on gating properties, in particular the increase of persistent current, resulting in a large increase of action current amplitude, consistent with stronger gain of function. Clinically, 13 out of 16 (81%) gain of function variants were associated with a reduction in seizures in response to sodium channel blocker treatment (carbamazepine, oxcarbazepine, phenytoin, lamotrigine or lacosamide) without evidence of symptom exacerbation. Our study expands the spectrum of gain of function SCN1A-related epilepsy phenotypes, defines key clinical features, provides novel insights into the underlying disease mechanisms between SCN1A-related epilepsy and familial hemiplegic migraine type 3, and identifies sodium channel blockers as potentially efficacious therapies. Gain of function disease should be considered in early onset epilepsies with a pathogenic SCN1A variant and non-Dravet syndrome phenotype.
Topics: Humans; Arthrogryposis; Epilepsies, Myoclonic; Epilepsy; Gain of Function Mutation; Migraine with Aura; Movement Disorders; NAV1.1 Voltage-Gated Sodium Channel; Phenotype; Spasms, Infantile; Infant, Newborn; Infant
PubMed: 35696452
DOI: 10.1093/brain/awac210 -
Brain : a Journal of Neurology Oct 2021Epilepsies of early childhood are frequently resistant to therapy and often associated with cognitive and behavioural comorbidity. Aetiology focused precision medicine,...
Epilepsies of early childhood are frequently resistant to therapy and often associated with cognitive and behavioural comorbidity. Aetiology focused precision medicine, notably gene-based therapies, may prevent seizures and comorbidities. Epidemiological data utilizing modern diagnostic techniques including whole genome sequencing and neuroimaging can inform diagnostic strategies and therapeutic trials. We present a 3-year, multicentre prospective cohort study, involving all children under 3 years of age in Scotland presenting with epilepsies. We used two independent sources for case identification: clinical reporting and EEG record review. Capture-recapture methodology was then used to improve the accuracy of incidence estimates. Socio-demographic and clinical details were obtained at presentation, and 24 months later. Children were extensively investigated for aetiology. Whole genome sequencing was offered for all patients with drug-resistant epilepsy for whom no aetiology could yet be identified. Multivariate logistic regression modelling was used to determine associations between clinical features, aetiology, and outcome. Three hundred and ninety children were recruited over 3 years. The adjusted incidence of epilepsies presenting in the first 3 years of life was 239 per 100 000 live births [95% confidence interval (CI) 216-263]. There was a socio-economic gradient to incidence, with a significantly higher incidence in the most deprived quintile (301 per 100 000 live births, 95% CI 251-357) compared with the least deprived quintile (182 per 100 000 live births, 95% CI 139-233), χ2 odds ratio = 1.7 (95% CI 1.3-2.2). The relationship between deprivation and incidence was only observed in the group without identified aetiology, suggesting that populations living in higher deprivation areas have greater multifactorial risk for epilepsy. Aetiology was determined in 54% of children, and epilepsy syndrome was classified in 54%. Thirty-one per cent had an identified genetic cause for their epilepsy. We present novel data on the aetiological spectrum of the most commonly presenting epilepsies of early childhood. Twenty-four months after presentation, 36% of children had drug-resistant epilepsy (DRE), and 49% had global developmental delay (GDD). Identification of an aetiology was the strongest determinant of both DRE and GDD. Aetiology was determined in 82% of those with DRE, and 75% of those with GDD. In young children with epilepsy, genetic testing should be prioritized as it has the highest yield of any investigation and is most likely to inform precision therapy and prognosis. Epilepsies in early childhood are 30% more common than previously reported. Epilepsies of undetermined aetiology present more frequently in deprived communities. This likely reflects increased multifactorial risk within these populations.
Topics: Causality; Child, Preschool; Cohort Studies; Drug Resistant Epilepsy; Epilepsy; Female; Follow-Up Studies; Humans; Infant; Infant, Newborn; Male; Prospective Studies; Retrospective Studies; Scotland; Socioeconomic Factors
PubMed: 34687210
DOI: 10.1093/brain/awab162 -
Epilepsia Apr 2005The International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE) have come to consensus definitions for the terms epileptic seizure and...
The International League Against Epilepsy (ILAE) and the International Bureau for Epilepsy (IBE) have come to consensus definitions for the terms epileptic seizure and epilepsy. An epileptic seizure is a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. Epilepsy is a disorder of the brain characterized by an enduring predisposition to generate epileptic seizures and by the neurobiologic, cognitive, psychological, and social consequences of this condition. The definition of epilepsy requires the occurrence of at least one epileptic seizure.
Topics: Brain; Consensus; Epilepsy; Humans; International Agencies; Terminology as Topic
PubMed: 15816939
DOI: 10.1111/j.0013-9580.2005.66104.x -
The Journal of Headache and Pain May 2019Migraine aura (MA) is a common and disabling neurological condition, characterized by transient visual, and less frequently sensory and dysphasic aura disturbances. MA...
BACKGROUND
Migraine aura (MA) is a common and disabling neurological condition, characterized by transient visual, and less frequently sensory and dysphasic aura disturbances. MA is associated with an increased risk of cardiovascular disorders and is often clinically difficult to distinguish from other serious neurological disorders such as transient ischemic attacks and epilepsy. Optimal clinical classification of MA symptoms is important for more accurate diagnosis and improved understanding of the pathophysiology of MA through clinical studies.
MAIN BODY
A systematic review of previous prospective and retrospective systematic recordings of visual aura symptoms (VASs) was performed to provide an overview of the different types of visual phenomena occurring during MA and their respective frequencies in patients. We found 11 retrospective studies and three prospective studies systematically describing VASs. The number of different types of VASs reported by patients in the studies ranged from two to 23. The most common were flashes of bright light, "foggy" vision, zigzag lines, scotoma, small bright dots and 'like looking through heat waves or water'.
CONCLUSIONS
We created a comprehensive list of VAS types reported by migraine patients based on all currently available data from clinical studies, which can be used for testing and validation in future studies. We propose that, based on this work, an official list of VAS types should be developed, preferably within the context of the International Classification of Headache Disorders of the International Headache Society.
Topics: Adult; Epilepsy; Female; Hallucinations; Humans; Ischemic Attack, Transient; Male; Migraine with Aura; Prospective Studies; Retrospective Studies; Vision, Ocular
PubMed: 31146673
DOI: 10.1186/s10194-019-1008-x -
Epileptic Disorders : International... Jun 2015To (1) summarize published, peer-reviewed literature about the incidence and prevalence of epilepsy in children from developed and developing countries around the world,... (Review)
Review
AIM
To (1) summarize published, peer-reviewed literature about the incidence and prevalence of epilepsy in children from developed and developing countries around the world, and (2) discuss problems in defining aetiologies of epilepsy in children, and distinguish between seizures and epilepsy.
METHODS
Review of selected literature with particular attention to systematic reviews.
RESULTS
The incidence of epilepsy in children ranges from 41-187/100,000. Higher incidence is reported from underdeveloped countries, particularly from rural areas. The incidence is consistently reported to be highest in the first year of life and declines to adult levels by the end of the first decade. The prevalence of epilepsy in children is consistently higher than the incidence and ranges from 3.2-5.5/1,000 in developed countries and 3.6-44/1,000 in underdeveloped countries. Prevalence also seems highest in rural areas. The incidence and prevalence of specific seizure types and epilepsy syndromes is less well documented. In population-based studies, there is a slight, but consistent, predominance of focal seizures compared with generalized seizures. Only about one third of children with epilepsy can be assigned to a specific epilepsy syndrome, as defined by the most recently proposed system for organization of epilepsy syndromes.
CONCLUSIONS
The incidence and prevalence of epilepsy in children appears to be lower in developed countries and highest in rural areas of underdeveloped countries. The reasons for these trends are not well established. Although focal seizures predominate, the incidence and prevalence of specific epilepsy syndromes is not well documented.
Topics: Child; Epilepsy; Humans
PubMed: 25895502
DOI: 10.1684/epd.2015.0736 -
Epilepsia Jun 2010To improve patient care and facilitate clinical research, the International League Against Epilepsy (ILAE) appointed a Task Force to formulate a consensus definition of...
To improve patient care and facilitate clinical research, the International League Against Epilepsy (ILAE) appointed a Task Force to formulate a consensus definition of drug resistant epilepsy. The overall framework of the definition has two "hierarchical" levels: Level 1 provides a general scheme to categorize response to each therapeutic intervention, including a minimum dataset of knowledge about the intervention that would be needed; Level 2 provides a core definition of drug resistant epilepsy using a set of essential criteria based on the categorization of response (from Level 1) to trials of antiepileptic drugs. It is proposed as a testable hypothesis that drug resistant epilepsy is defined as failure of adequate trials of two tolerated, appropriately chosen and used antiepileptic drug schedules (whether as monotherapies or in combination) to achieve sustained seizure freedom. This definition can be further refined when new evidence emerges. The rationale behind the definition and the principles governing its proper use are discussed, and examples to illustrate its application in clinical practice are provided.
Topics: Advisory Committees; Anticonvulsants; Consensus; Drug Resistance; Epilepsy; Humans; Internationality; Treatment Outcome
PubMed: 19889013
DOI: 10.1111/j.1528-1167.2009.02397.x -
Arquivos de Neuro-psiquiatria May 2022Vestibular migraine (VM) remains an underdiagnosed condition, often mistaken with brainstem aura. VM is defined by recurrent vestibular symptoms in at least 50% of...
Vestibular migraine (VM) remains an underdiagnosed condition, often mistaken with brainstem aura. VM is defined by recurrent vestibular symptoms in at least 50% of migraine attacks. Diagnosis is established by clinical criteria based on the International Classification of Headache Disorders (ICHD-3). Estimated prevalence of VM is 1 to 2.7% of the adult population. Vestibular symptoms usually appear after the headache. VM pathophysiology remains poorly understood. Vertigo may occur before, during, after the migraine attack, or even independently, and may last seconds to hours or days. Pathophysiological mechanisms for VM are still poorly understood and are usually extrapolated from migraines. Differential diagnoses include Ménière's disease, benign paroxysmal positional vertigo, brainstem aura, transient ischemic attack, persistent perceptual postural vertigo, and episodic type 2 ataxia. Specific treatment recommendations for vestibular migraine are still scarce.
Topics: Adult; Benign Paroxysmal Positional Vertigo; Diagnosis, Differential; Epilepsy; Humans; Migraine Disorders
PubMed: 35976301
DOI: 10.1590/0004-282X-ANP-2022-S111 -
Epilepsia Oct 2022Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation for surgical candidacy can be life-saving for patients who are...
Epilepsy surgery is the treatment of choice for patients with drug-resistant seizures. A timely evaluation for surgical candidacy can be life-saving for patients who are identified as appropriate surgical candidates, and may also enhance the care of nonsurgical candidates through improvement in diagnosis, optimization of therapy, and treatment of comorbidities. Yet, referral for surgical evaluations is often delayed while palliative options are pursued, with significant adverse consequences due to increased morbidity and mortality associated with intractable epilepsy. The Surgical Therapies Commission of the International League Against Epilepsy (ILAE) sought to address these clinical gaps and clarify when to initiate a surgical evaluation. We conducted a Delphi consensus process with 61 epileptologists, epilepsy neurosurgeons, neurologists, neuropsychiatrists, and neuropsychologists with a median of 22 years in practice, from 28 countries in all six ILAE world regions. After three rounds of Delphi surveys, evaluating 51 unique scenarios, we reached the following Expert Consensus Recommendations: (1) Referral for a surgical evaluation should be offered to every patient with drug-resistant epilepsy (up to 70 years of age), as soon as drug resistance is ascertained, regardless of epilepsy duration, sex, socioeconomic status, seizure type, epilepsy type (including epileptic encephalopathies), localization, and comorbidities (including severe psychiatric comorbidity like psychogenic nonepileptic seizures [PNES] or substance abuse) if patients are cooperative with management; (2) A surgical referral should be considered for older patients with drug-resistant epilepsy who have no surgical contraindication, and for patients (adults and children) who are seizure-free on 1-2 antiseizure medications (ASMs) but have a brain lesion in noneloquent cortex; and (3) referral for surgery should not be offered to patients with active substance abuse who are noncooperative with management. We present the Delphi consensus results leading up to these Expert Consensus Recommendations and discuss the data supporting our conclusions. High level evidence will be required to permit creation of clinical practice guidelines.
Topics: Adult; Child; Consensus; Drug Resistant Epilepsy; Epilepsy; Humans; Referral and Consultation; Seizures
PubMed: 35842919
DOI: 10.1111/epi.17350