Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 80
Filtrar
Más filtros

Banco de datos
Tipo del documento
Intervalo de año de publicación
1.
Epilepsia ; 65(7): 1899-1906, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38624097

RESUMEN

In the case of suspicion of nonconvulsive status epilepticus (NCSE), reactivity on electroencephalograms (EEGs) can provide valuable diagnostic information. Reactivity refers to responses to auditory or somatosensory stimulation, with changes in amplitude and frequency of background activity. Because of self-perpetuating processes and the failure of self-terminating mechanisms, status epilepticus is unlikely to cease when patients spontaneously move, and it cannot typically be stopped by external stimulation (i.e., auditory and tactile stimuli). The defining EEG characteristic of absence status epilepticus is the presence of bilateral, synchronous, symmetric, rhythmic paroxysmal activity that shows little or no reactivity to sensory stimulation. On the other hand, in metabolic/toxic or multifactorial encephalopathies, triphasic waves (TWs) are influenced by the level of vigilance. TWs may be transiently abolished when patients increase their level of alertness from a drowsy/lethargic state to a state of wakefulness. This reactivity is only observed when patients can be aroused by a somatosensory or auditory stimulus. This reactivity tends to disappear with increasing severity of the disease and in comatose patients. In patients without preexisting developmental and epileptic encephalopathy, this pattern of stimulus-induced wakefulness with transient improvement of the EEG is a major criterion in determining that the EEG patterns are not ictal. This criterion of reactivity on EEGs, beyond the classical clinical/EEG criteria of NCSE (Salzburg criteria), should now be systematically added.


Asunto(s)
Nivel de Alerta , Electroencefalografía , Estado Epiléptico , Humanos , Electroencefalografía/métodos , Nivel de Alerta/fisiología , Estado Epiléptico/fisiopatología , Estado Epiléptico/diagnóstico , Estimulación Acústica/métodos , Diagnóstico Diferencial
2.
Eur J Neurol ; 30(1): 22-31, 2023 01.
Artículo en Inglés | MEDLINE | ID: mdl-36094672

RESUMEN

BACKGROUND AND PURPOSE: A clinical risk score for sudden unexpected death in epilepsy (SUDEP) in patients with drug-resistant focal epilepsy could help improve prevention. METHODS: A case-control study was conducted including (i) definite or probable SUDEP cases collected by the French National Sentinel Mortality Epilepsy Network and (ii) control patients from the French national research database of epilepsy monitoring units. Patients with drug-resistant focal epilepsy were eligible. Multiple logistic regressions were performed. After sensitivity analysis and internal validation, a simplified risk score was developed from the selected variables. RESULTS: Sixty-two SUDEP cases and 620 controls were included. Of 21 potential predictors explored, seven were ultimately selected, including generalized seizure frequency (>1/month vs. <1/year: adjusted odds ratio [AOR] 2.6, 95% confidence interval [CI] 1.25-5.41), nocturnal or sleep-related seizures (AOR 4.49, 95% CI 2.68-7.53), current or past depression (AOR 2.0, 95% CI 1.19-3.34) or the ability to alert someone of an oncoming seizure (AOR 0.57, 95% CI 0.33-0.98). After internal validation, a clinically usable score ranging from -1 to 8 was developed, with high discrimination capabilities (area under the receiver operating curve 0.85, 95% CI 0.80-0.90). The threshold of 3 has good sensitivity (82.3%, 95% CI 72.7-91.8), whilst keeping a good specificity (82.7%, 95% CI 79.8-85.7). CONCLUSIONS: These results outline the importance of generalized and nocturnal seizures on the occurrence of SUDEP, and show a protective role in the ability to alert someone of an oncoming seizure. The SUDEP-CARE score is promising and will need external validation. Further work, including paraclinical explorations, could improve this risk score.


Asunto(s)
Epilepsia Refractaria , Epilepsias Parciales , Epilepsia , Muerte Súbita e Inesperada en la Epilepsia , Adulto , Humanos , Muerte Súbita e Inesperada en la Epilepsia/epidemiología , Estudios de Casos y Controles , Muerte Súbita/epidemiología , Muerte Súbita/etiología , Muerte Súbita/prevención & control , Epilepsia/epidemiología , Epilepsia Refractaria/complicaciones , Convulsiones , Factores de Riesgo , Epilepsias Parciales/complicaciones
3.
Epilepsy Behav ; 126: 108486, 2022 01.
Artículo en Inglés | MEDLINE | ID: mdl-34929474

RESUMEN

OBJECTIVE: To assess the relation between coffee consumption and seizure frequency in patients with drug-resistant focal epilepsy. METHODS: Cross-sectional analysis of data collected in the SAVE study, which included patients with drug-resistant focal epilepsy during long-term EEG monitoring. Patients in whom both coffee consumption and data about seizure frequency, including focal to bilateral tonic-clonic seizures (FBTCS), were available were selected. Coffee consumption was collected using a standardized self-report questionnaire and classified into four groups: none, rare (from less than 1 cup/week to up 3 cups/week), moderate (from 4 cups/week to 3 cups/day), and high (more than 4 cups/day). RESULTS: Six hundred and nineteen patients were included. There was no relation between coffee consumption and total seizure frequency (p = 0.902). In contrast, the number of FBTCS reported over the past year was significantly associated with usual coffee consumption (p = 0.029). Specifically, number of FBCTS in patients who reported moderate coffee consumption was lower than in others. In comparison with patients with moderate coffee consumption, the odds ratio (95%CI) for reporting at least 1 FBTCS per year was 1.6 (1.03-2.49) in patients who never take coffee, 1.62 (1.02-2.57) in those with rare consumption and 2.05 (1.24-3.4) in those with high consumption. Multiple ordinal logistic regression showed a trend toward an association between coffee consumption and number of FBTCS (p = 0.08). CONCLUSIONS AND RELEVANCE: Our data suggest that effect of coffee consumption on seizures might depend on dose with potential benefits on FBTCS frequency at moderate doses. These results will have to be confirmed by prospective studies.


Asunto(s)
Café , Epilepsias Parciales , Anticonvulsivantes/uso terapéutico , Estudios Transversales , Epilepsias Parciales/tratamiento farmacológico , Epilepsias Parciales/epidemiología , Humanos , Estudios Prospectivos , Convulsiones/tratamiento farmacológico , Convulsiones/epidemiología
4.
Epilepsy Behav ; 125: 108412, 2021 12.
Artículo en Inglés | MEDLINE | ID: mdl-34788730

RESUMEN

OBJECTIVE: To understand the lived experience of people with epilepsy (PWE) and their relatives, the risks associated with epilepsy, the information received from healthcare professionals, and the reaction to this information. METHODS: Qualitative phenomenological study conducted between 2016 and 2018. Individual semi-directive in-depth interviews were performed based on a triangulation of sources in three study groups: PWE, relatives of PWE, and bereaved families. Interviews were analyzed continuously, using a semiopragmatic method until data saturation. RESULTS: Interviews with PWE (N = 16), relatives of PWE (N = 8), and bereaved families (N = 10) led to several observations: (i) The stigmatizing representations of epilepsy and its constraints lead to a feeling of abnormality which determines the behavior of patients and their relatives; (ii) The global uncertainty surrounding epilepsy is an obstacle to the delivery of clear and personalized information by professionals, and, consequently, to empowerment; (iii) The communication skills of the physician have an impact on the lived experiences of patients and relatives; (iv) Better knowledge on direct mortal epilepsy-related risk could influence the perception of danger to oneself, and help find a balance between overprotection and trivialization. The experience of the patients and relatives led them to formulate concrete recommendations: (i) for the general public: to run information campaigns in order to limit stigmatization; (ii) for caregivers: to provide personalized and detailed information without minimizing the risks, in order to enable patients to "live by setting these risks"; (iii) for patients: to have a trusted person who is informed and trained in seizure management, to join patient associations. CONCLUSION: Our study points out that stigma, uncertainty, and lack of clarity of information are all barriers to patient empowerment. In order to provide prompt and personalized information on how to live with epilepsy while managing the risks, physicians need to develop person-centered communication skills. Future research is also required for the development of tools to facilitate this communication.


Asunto(s)
Epilepsia , Humanos , Gestión de Riesgos , Convulsiones , Estigma Social , Estereotipo
6.
Ann Neurol ; 81(5): 677-689, 2017 May.
Artículo en Inglés | MEDLINE | ID: mdl-28380698

RESUMEN

OBJECTIVE: To comprehensively describe the new syndrome of myoclonus epilepsy and ataxia due to potassium channel mutation (MEAK), including cellular electrophysiological characterization of observed clinical improvement with fever. METHODS: We analyzed clinical, electroclinical, and neuroimaging data for 20 patients with MEAK due to recurrent KCNC1 p.R320H mutation. In vitro electrophysiological studies were conducted using whole cell patch-clamp to explore biophysical properties of wild-type and mutant KV 3.1 channels. RESULTS: Symptoms began at between 3 and 15 years of age (median = 9.5), with progressively severe myoclonus and rare tonic-clonic seizures. Ataxia was present early, but quickly became overshadowed by myoclonus; 10 patients were wheelchair-bound by their late teenage years. Mild cognitive decline occurred in half. Early death was not observed. Electroencephalogram (EEG) showed generalized spike and polyspike wave discharges, with documented photosensitivity in most. Polygraphic EEG-electromyographic studies demonstrated a cortical origin for myoclonus and striking coactivation of agonist and antagonist muscles. Magnetic resonance imaging revealed symmetrical cerebellar atrophy, which appeared progressive, and a prominent corpus callosum. Unexpectedly, transient clinical improvement with fever was noted in 6 patients. To explore this, we performed high-temperature in vitro recordings. At elevated temperatures, there was a robust leftward shift in activation of wild-type KV 3.1, increasing channel availability. INTERPRETATION: MEAK has a relatively homogeneous presentation, resembling Unverricht-Lundborg disease, despite the genetic and biological basis being quite different. A remarkable improvement with fever may be explained by the temperature-dependent leftward shift in activation of wild-type KV 3.1 subunit-containing channels, which would counter the loss of function observed for mutant channels, highlighting KCNC1 as a potential target for precision therapeutics. Ann Neurol 2017;81:677-689.


Asunto(s)
Ataxia , Disfunción Cognitiva/etiología , Epilepsias Mioclónicas , Calor , Canales de Potasio Shaw/metabolismo , Adolescente , Adulto , Edad de Inicio , Ataxia/complicaciones , Ataxia/diagnóstico por imagen , Ataxia/genética , Ataxia/fisiopatología , Electroencefalografía , Epilepsias Mioclónicas/complicaciones , Epilepsias Mioclónicas/diagnóstico por imagen , Epilepsias Mioclónicas/genética , Epilepsias Mioclónicas/fisiopatología , Femenino , Células HEK293 , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Mutación , Linaje , Canales de Potasio Shaw/genética , Síndrome , Adulto Joven
7.
Hum Mol Genet ; 24(11): 3082-91, 2015 Jun 01.
Artículo en Inglés | MEDLINE | ID: mdl-25691535

RESUMEN

Temporal lobe epilepsy (TLE) is a common epilepsy syndrome with a complex etiology. Despite evidence for the participation of genetic factors, the genetic basis of TLE remains largely unknown. A role for the galanin neuropeptide in the regulation of epileptic seizures has been established in animal models more than two decades ago. However, until now there was no report of pathogenic mutations in GAL, the galanin-encoding gene, and therefore its role in human epilepsy was not established. Here, we studied a family with a pair of monozygotic twins affected by TLE and two unaffected siblings born to healthy parents. Exome sequencing revealed that both twins carried a novel de novo mutation (p.A39E) in the GAL gene. Functional analysis revealed that the p.A39E mutant showed antagonistic activity against galanin receptor 1 (GalR1)-mediated response, and decreased binding affinity and reduced agonist properties for GalR2. These findings suggest that the p.A39E mutant could impair galanin signaling in the hippocampus, leading to increased glutamatergic excitation and ultimately to TLE. In a cohort of 582 cases, we did not observe any pathogenic mutations indicating that mutations in GAL are a rare cause of TLE. The identification of a novel de novo mutation in a biologically-relevant candidate gene, coupled with functional evidence that the mutant protein disrupts galanin signaling, strongly supports GAL as the causal gene for the TLE in this family. Given the availability of galanin agonists which inhibit seizures, our findings could potentially have direct implications for the development of anti-epileptic treatment.


Asunto(s)
Epilepsia del Lóbulo Temporal/genética , Galanina/genética , Adulto , Animales , Secuencia de Bases , Células CHO , Cricetinae , Cricetulus , Análisis Mutacional de ADN , Estudios de Asociación Genética , Humanos , Mutación Missense , Linaje , Unión Proteica , Transducción de Señal
8.
Epilepsia ; 58(4): 543-547, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28166365

RESUMEN

OBJECTIVE: Perampanel (PER) was used in 12 patients with Unverricht-Lundborg disease (ULD) to evaluate its efficacy against myoclonus and seizures. METHODS: We treated 11 patients with EPM1 mutations (6 F, 5 M, aged 13-62 years) and a 43-year-old man with de novo KCNC1 mutation. PER was introduced by 2 mg steps at 2-4 week intervals until 6 mg/day, with a possible dose reduction or dose increase. RESULTS: Ten patients had a clear clinical response of myoclonus, and five were able to reduce concomitant therapy. Improvement was noted sometimes as soon as with 2 mg/day. Epileptic seizures stopped on PER in the six patients who still had experienced generalized tonic-clonic or myoclonic seizures (100%). Some abatement of efficacy on myoclonus was seen in two patients who still retained some benefit. Weight gain was reported in six patients (50%). Psychological and behavioral side-effects were observed in six patients (50%) and led to withdrawal of PER in three cases and dose reduction in three, with abatement of the problems. SIGNIFICANCE: This study provides evidence that for ULD patients, PER may show marked efficacy even in severe cases, particularly against myoclonus, but also against seizures. PER should thus be tried in ULD patients whose seizures are not satisfactorily controlled. Its use is limited because of psychological and behavioral side effects, with higher doses of approximately 6 mg/day or greater likely risk factors.


Asunto(s)
Anticonvulsivantes/uso terapéutico , Piridonas/uso terapéutico , Síndrome de Unverricht-Lundborg/tratamiento farmacológico , Adolescente , Adulto , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Mutación/genética , Proteínas de Neoplasias/genética , Nitrilos , Receptores de Superficie Celular/genética , Canales de Potasio Shaw/genética , Resultado del Tratamiento , Síndrome de Unverricht-Lundborg/genética , Adulto Joven
9.
Epilepsia ; 57(10): 1669-1679, 2016 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-27595433

RESUMEN

OBJECTIVE: Despite its well-known effectiveness, the cost-effectiveness of epilepsy surgery has never been demonstrated in France. We compared cost-effectiveness between resective surgery and medical therapy in a controlled cohort of adult patients with partial intractable epilepsy. METHODS: A prospective cohort of adult patients with surgically remediable and medically intractable partial epilepsy was followed over 5 years in the 15 French centers. Effectiveness was defined as 1 year without a seizure, based on the International League Against Epilepsy (ILAE) classification. Clinical outcomes and direct costs were compared between surgical and medical groups. Long-term direct costs and effectiveness were extrapolated over the patients' lifetimes with a Monte-Carlo simulation using a Markov model, and an incremental cost-effectiveness ratio (ICER) was computed. Indirect costs were also evaluated. RESULTS: Among the 289 enrolled surgery candidates, 207 were operable-119 in the surgical group and 88 in the medical group-65 were not operable and not analyzed here, 7 were finally not eligible, and 10 were not followed. The proportion of patients completely seizure-free during the last 12 months (ILAE class 1) was 69.0% in the operated group and 12.3% in the medical group during the second year (p < 0.001), and it was respectively 76.8% and 21% during the fifth year (p < 0.001). Direct costs became significantly lower in the surgical group the third year after surgery, as a result of less antiepileptic drug use. The value of the discounted ICER was 10,406 (95% confidence interval [CI] 10,182-10,634) at 2 years and 2,630 (CI 95% 2,549-2,713) at 5 years. Surgery became cost-effective between 9 and 10 years after surgery, and even earlier if indirect costs were taken into account as well. SIGNIFICANCE: Our study suggests that in addition to being safe and effective, resective surgery of epilepsy is cost-effective in the medium term. It should therefore be considered earlier in the development of epilepsy.


Asunto(s)
Epilepsias Parciales/economía , Epilepsias Parciales/cirugía , Procedimientos Neuroquirúrgicos/economía , Procedimientos Neuroquirúrgicos/métodos , Adolescente , Adulto , Anticonvulsivantes/economía , Anticonvulsivantes/uso terapéutico , Estudios de Cohortes , Análisis Costo-Beneficio , Atención a la Salud/economía , Atención a la Salud/métodos , Epilepsia Refractaria , Epilepsias Parciales/tratamiento farmacológico , Femenino , Francia , Humanos , Masculino , Persona de Mediana Edad , Estadísticas no Paramétricas , Factores de Tiempo , Resultado del Tratamiento , Adulto Joven
10.
Epilepsy Behav ; 48: 15-20, 2015 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-26037844

RESUMEN

OBJECTIVE: The aim of this study was to investigate the potential role of an acute adverse stress as "trigger" for the onset of epilepsy. METHODS: Among 4618 consecutive patients, twenty-two reported a major life event within three months before the onset of epilepsy. RESULTS: All patients had focal epilepsy except one with idiopathic generalized epilepsy. The temporal lobe was involved in 90% of patients with focal epilepsy. More precisely, 13 patients (62% of patients with focal epilepsy) had medial temporal lobe epilepsy (MTLE), two had lateral temporal lobe epilepsy, four had temporoparietooccipital junction epilepsy, and two patients had central lobe epilepsy. The mean age and the median age at onset of epilepsy for patients with MTLE were both 38 years (range: 9.5-65 years). Ten patients had right and three had left MTLE. Among patients with focal epilepsy, MRI was abnormal in 7 (33%) with hippocampal sclerosis in four, periventricular nodular heterotopia in two, and complex cortical dysgenesis in one. The mean age at onset of epilepsy for patients with brain lesions was 26 years (range: 9.5-49). Twelve patients (54%) reported a death as a triggering factor for the onset of their epilepsy. Seven patients (32%) reported that a relationship of trust had been broken. Three patients (14%) had been subjects of violence. No patient reported sexual abuse as a triggering factor. CONCLUSION: This study provides evidence that some patients (5/1000 patients) began their seizures in the wake of significant life events. The average age at onset of epilepsy is quite late, around age 30, even in the presence of brain lesions. These patients are emotionally and affectively more prone to have consequences of a stressful life event. The recognition and management of such situations may bring significant relief with improvement of the control of epilepsy.


Asunto(s)
Emociones/fisiología , Epilepsia/fisiopatología , Hipocampo/patología , Convulsiones/fisiopatología , Estrés Psicológico/complicaciones , Adulto , Edad de Inicio , Anciano , Corteza Cerebral/fisiopatología , Epilepsia/psicología , Epilepsia del Lóbulo Temporal/patología , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Persona de Mediana Edad , Estrés Psicológico/psicología , Lóbulo Temporal/fisiopatología
11.
Epileptic Disord ; 17(1): 95-6, 2015 Mar.
Artículo en Inglés | MEDLINE | ID: mdl-25644293

RESUMEN

Myoclonic status epilepticus or mixed absence-myoclonic status is uncommon in juvenile myoclonic epilepsy (JME), often precipitated by sleep deprivation, withdrawal of medication, or inadequate antiepileptic drugs (Thomas et al., 2006; Crespel et al., 2013). Such episodes respond well to benzodiazepines or valproate (Crespel et al., 2013). We present the video-EEG of a 24-year-old woman with JME and bipolar disorder. She had a confusional state five days after withdrawal of clonazepam (14 mg/d) and introduction of oxazepam (200 mg/d), followed by catatonic stupor with subtle myoclonus of the face and the arms. The EEG showed absence status (figures 1, 2), which stopped after IV injection of clonazepam (1 mg) (figure 3). Consciousness returned to normal [Published with video sequence and figures (1)].


Asunto(s)
Epilepsias Mioclónicas/etiología , Epilepsia Mioclónica Juvenil/complicaciones , Estado Epiléptico/etiología , Anticonvulsivantes/efectos adversos , Anticonvulsivantes/uso terapéutico , Trastorno Bipolar/complicaciones , Catatonia/etiología , Clonazepam/efectos adversos , Clonazepam/uso terapéutico , Electroencefalografía , Femenino , Humanos , Oxazepam/efectos adversos , Oxazepam/uso terapéutico , Ácido Valproico/uso terapéutico , Adulto Joven
12.
Seizure ; 114: 18-22, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38035489

RESUMEN

BACKGROUND: In Dravet syndrome (DS), EEGs evolve over time. OBJECTIVE: To describe a peculiar EEG pattern in two adults with a de novo SCN1A gene mutation, in exon 5 (case 1) and 9 (case 2). METHODS: Two female patients underwent a prolonged video EEG (24 h) as part of their epilepsy assessment. RESULTS: In both cases, the EEG showed a very peculiar and stereotypical pattern of bilateral synchronous spikes at about 5-6 Hz. This activity was present during wakefulness and highly activated at sleep onset and in NREM sleep, which could show nearly continuous spike activity. This activity dramatically decreased in REM sleep and after awakening. This pattern of "dents de scie" (sawtooth) spikes maintained the same morphology throughout the entire EEG recording. In both patients, the spikes were favored by passive eye closure. During wakefulness, the spikes could evolve into atypical absences while keeping the same "dents de scie" pattern. Neither patient had tonic or myoclonic seizures at the time of the EEG assessment. Both were moderately retarded, and neither one had a typical DS gait disorder. Previous EEG recordings of case 1 performed at 9.5 and 18.5 years showed spike-waves, but the morphology did not correspond to the EEG recording observed at 22 years. CONCLUSIONS: Both patients have a similar electro-clinical phenotype. This "dents de scie" pattern appears to be very specific and could be pathognomonic in a subgroup of young adults with DS. Results of sleep EEG recording could be added to the diagnostic criteria for this syndrome.


Asunto(s)
Electroencefalografía , Epilepsias Mioclónicas , Humanos , Femenino , Adulto Joven , Electroencefalografía/métodos , Epilepsias Mioclónicas/diagnóstico , Epilepsias Mioclónicas/genética , Convulsiones/diagnóstico , Sueño , Vigilia
13.
Neurophysiol Clin ; 54(3): 102947, 2024 May.
Artículo en Inglés | MEDLINE | ID: mdl-38422722

RESUMEN

Epilepsy with eyelid myoclonia (EM) or Jeavons syndrome (JS) is an epileptic syndrome related to the spectrum of genetic generalized epilepsies (GGE). We report two untreated children on which EEGs were performed several hours after a generalized tonic-clonic seizure (GTCS). These showed a unilateral, nearly continuous posterior slowing. This slow-wave activity was associated with contralateral epileptiform activity in one case, while in the second case, it was associated with an ipsilateral activity. However, in the latter child, a few months later an independent focus on the contralateral side was observed. A diagnosis of focal occipital lobe epilepsy was proposed in both cases, and one child underwent a left occipital lobectomy at 3.5 years of age. Despite surgery, absences with EM persisted in this child, and a marked photosensitivity to photic stimulation was observed two years later. The focal slow wave activity of one occipital lobe several hours after a GTCS in these two subjects was in favor of a focal onset preceding the generalization. The EEG evidence for independent left and right posterior focus in these two cases, the persistence of EM, and the development of a marked photosensitivity to photic stimulation in the child who underwent an occipital lobectomy, allow us to suggest that JS is associated with a network of bi-occipital hyperexcitability that rapidly engages bilaterally to produce generalized seizures.


Asunto(s)
Electroencefalografía , Epilepsias Parciales , Epilepsia Generalizada , Humanos , Epilepsias Parciales/fisiopatología , Epilepsias Parciales/diagnóstico , Epilepsias Parciales/complicaciones , Masculino , Preescolar , Epilepsia Generalizada/fisiopatología , Epilepsia Generalizada/diagnóstico , Epilepsia Generalizada/complicaciones , Femenino , Niño , Mioclonía/fisiopatología , Mioclonía/diagnóstico , Párpados/fisiopatología
14.
J Neurol ; 271(7): 3869-3878, 2024 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-38761192

RESUMEN

Normal EEG variants, especially the epileptiform variants, can be challenging to interpret because they often have sharp contours and may be confused with "epileptic" interictal activities. However, they can be recognized by the fact that "most spikes or sharp wave discharges of clinical import are followed by a slow wave or a series of slow deflections" (Maulsby, 1971). If there is no wave after the spike, electroencephalographers should be suspicious of artifacts and normal EEG variants. Most normal EEG variants display a single rhythm with the same frequency within the pattern and the morphology remains stable throughout the entire EEG recording with repetition of the same pattern. In case of doubt or difficulties with a standard EEG, it is recommended to undergo an EEG that includes sleep stages with or without sleep deprivation. Finally, epileptiform is an ambiguous term corresponding to an electroencephalographic trait. Epileptiform does not imply a pathological condition, including epilepsy. The clinical context remains the most paramount in the diagnosis of epilepsy. In this article, we propose a set of rules and guidelines to identify normal EEG variants in EEG tracings and normal variation of the background activity. It is not easy to accurately assign a specific/precise name to all EEG activity, but with an orderly approach to EEG that involves using a set of criteria, nonepileptic activity can be identified.


Asunto(s)
Electroencefalografía , Epilepsia , Humanos , Electroencefalografía/métodos , Electroencefalografía/normas , Epilepsia/diagnóstico , Epilepsia/fisiopatología , Encéfalo/fisiopatología , Ondas Encefálicas/fisiología
15.
Neurophysiol Clin ; 54(1): 102935, 2024 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-38394943

RESUMEN

OBJECTIVES: To compare the prevalence of benign EEG variants (BEVs) between epileptic and non-epileptic subjects. METHODS: A prospective, observational EEG study of 1,163 consecutive patients, using the 10-20 international system with systematically two additional anterior/inferior temporal electrodes. The video-EEG monitoring duration was between 24 h and eight days. RESULTS: We identified 917 (78.9%) epileptic patients (mean age: 33.42 ± 15.5 years; females: 53.4%) and 246 (21.2%) non-epileptic patients (mean age: 35.6 ± 18.75 years; females: 54.9%). Despite a shorter mean duration of the EEG recordings, the prevalence of BEVs was higher in non-epileptic vs. epileptic patients (73.2% vs. 57.8%, p = 0.000011). This statistical difference was confirmed for lambda waves (23.6% in the non-epilepsy group vs. 14.8% in the epilepsy group, p = 0.001), POSTs (50.8% vs. 32.5%, p < 0.000001), wicket spikes (20.3% vs. 13.6%, p = 0.009) in particular in NREM and REM sleep, and 14- and 6-Hz positive bursts (13% vs. 7.1% p = 0.003). Mu rhythm was observed at the same frequency in both groups (21.1% in the non-epilepsy group vs. 22.7% in the epilepsy group). There was no difference between the two groups for rarer rhythms, such as rhythmic mid-temporal theta burst of drowsiness, small sharp spikes, and midline theta rhythm. CONCLUSIONS: There was no increase in any of the BEVs in the epilepsy group. On the contrary, BEVs were more frequent and diversified in the non-epilepsy group. Epilepsy may negatively affect the occurrence of the most common BEVs, with the exception of the mu rhythm, which is present in about one-fifth of the population with or without epilepsy.


Asunto(s)
Epilepsia , Adolescente , Adulto , Femenino , Humanos , Persona de Mediana Edad , Adulto Joven , Electroencefalografía , Epilepsia/complicaciones , Epilepsia/epidemiología , Estudios Prospectivos , Sueño REM , Ritmo Teta
16.
J Biol Chem ; 287(51): 42900-9, 2012 Dec 14.
Artículo en Inglés | MEDLINE | ID: mdl-23105115

RESUMEN

Carboxypeptidase A6 (CPA6) is a member of the A/B subfamily of M14 metallocarboxypeptidases that is expressed in brain and many other tissues during development. Recently, two mutations in human CPA6 were associated with febrile seizures and/or temporal lobe epilepsy. In this study we screened for additional CPA6 mutations in patients with febrile seizures and focal epilepsy, which encompasses the temporal lobe epilepsy subtype. Mutations found from this analysis as well as CPA6 mutations reported in databases of single nucleotide polymorphisms were further screened by analysis of the modeled proCPA6 protein structure and the functional role of the mutated amino acid. The point mutations predicted to affect activity and/or protein folding were tested by expression of the mutant in HEK293 cells and analysis of the resulting CPA6 protein. Common polymorphisms in CPA6 were also included in this analysis. Several mutations resulted in reduced enzyme activity or CPA6 protein levels in the extracellular matrix. The mutants with reduced extracellular CPA6 protein levels showed normal levels of 50-kDa proCPA6 in the cell, and this could be converted into 37-kDa CPA6 by trypsin, suggesting that protein folding was not greatly affected by the mutations. Interestingly, three of the mutations that reduced extracellular CPA6 protein levels were found in patients with epilepsy. Taken together, these results provide further evidence for the involvement of CPA6 mutations in human epilepsy and reveal additional rare mutations that inactivate CPA6 and could, therefore, also be associated with epileptic phenotypes.


Asunto(s)
Carboxipeptidasas A/genética , Carboxipeptidasas A/metabolismo , Epilepsia/enzimología , Epilepsia/genética , Predisposición Genética a la Enfermedad , Mutación/genética , Adolescente , Adulto , Alelos , Carboxipeptidasas A/química , Estudios de Casos y Controles , Niño , Demografía , Precursores Enzimáticos/metabolismo , Estabilidad de Enzimas/efectos de los fármacos , Familia , Femenino , Pruebas Genéticas , Células HEK293 , Calor , Humanos , Peróxido de Hidrógeno/farmacología , Masculino , Modelos Moleculares , Proteínas Mutantes/química , Proteínas Mutantes/genética , Proteínas Mutantes/metabolismo , Polimorfismo de Nucleótido Simple/genética , Tripsina/metabolismo
17.
Epilepsia ; 54(1): e5-8, 2013 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-22780580

RESUMEN

Rufinamide (RUF) is a novel antiepileptic drug considered as second-line therapy in the treatment of Lennox-Gastaut syndrome. Treatment-emergent adverse events (AEs) have consisted mainly of drowsiness, irritability, vomiting, and loss of appetite. RUF is considered as a "weight-neutral" drug. We found clinically significant weight loss in 7 of 15 consecutive adult patients (47%; 3 male, 4 female, aged 18-31 years) treated with RUF as add-on therapy (800-2,400 mg/day: 23.5-57.1 mg/kg/day). The body mass index (BMI) decreased by 7.3-18.7%. Two patients were obese class I before RUF. Five patients (71%) were underweight before RUF (mild in one case, moderate in two cases, and severe in two cases). Four of these patients stopped RUF because of this adverse effect. RUF was recommenced in two patients using a lower and slower dosing strategy; one patient showed improvement in seizure control and no weight loss but RUF was re-stopped in the second patient because of continued weight loss. Despite of weight loss, RUF was continued in two other patients because it reduced seizure activity. We primarily related weight loss to reduced food intake, that is, loss of appetite and nausea, although in two patients no obvious loss of appetite was reported. RUF can cause clinically significant weight loss in adult patients, even at low dose. This AE can affect patients who are already underweight. There is a possibility that lower starting doses and slower escalation might minimize weight loss, but further information is required to determine whether this is the case.


Asunto(s)
Anticonvulsivantes/efectos adversos , Triazoles/efectos adversos , Pérdida de Peso/efectos de los fármacos , Adolescente , Adulto , Anticonvulsivantes/uso terapéutico , Índice de Masa Corporal , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Masculino , Triazoles/uso terapéutico , Adulto Joven
18.
Epilepsy Behav ; 28 Suppl 1: S81-6, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23756489

RESUMEN

Juvenile myoclonic epilepsy (JME) is a common form of epilepsy and a fairly lifelong disorder that may significantly lower a patient's expectations and potential for a full life. Luckily, it is also a highly treatable disorder, and up to 85% of patients with JME will enjoy satisfactory seizure control. Among anticonvulsants, valproate still stands out as the most efficacious drug, but may be poorly tolerated by some, and is considered unsafe for the fetuses of pregnant women. Alternatives have emerged in recent years, especially levetiracetam, but also topiramate, zonisamide or lamotrigine. In some cases, combination therapy may be useful or even required. One should not forget the potential aggravation induced not only by some commonly used anticonvulsants, especially carbamazepine and oxcarbazepine, but also, in some patients, by lamotrigine. In special settings, older drugs like benzodiazepines and barbiturates may be useful. But the management of JME should also include intervention in lifestyle, with strict avoidance of sleep deprivation and the management of copathologies, including the cognitive and psychiatric problems that are often encountered. With adequate management, there will only remain a small proportion of patients with uncontrolled epilepsy and all of its related problems. Juvenile myoclonic epilepsy is a condition in which the clinician has a fair chance of significantly helping the patient with medication and counseling.


Asunto(s)
Manejo de la Enfermedad , Epilepsia Mioclónica Juvenil/diagnóstico , Epilepsia Mioclónica Juvenil/terapia , Electroencefalografía , Femenino , Humanos , Masculino
19.
Epilepsy Behav ; 28 Suppl 1: S87-90, 2013 Jul.
Artículo en Inglés | MEDLINE | ID: mdl-23756490

RESUMEN

An international workshop on juvenile myoclonic epilepsy (JME) was conducted in Avignon, France in May 2011. During that workshop, a group of 45 experts on JME, together with one of the founding fathers of the syndrome of JME ("Janz syndrome"), Prof. Dr. Dieter Janz from Berlin, reached a consensus on diagnostic criteria and management of JME. The international experts on JME proposed two sets of criteria, which will be helpful for both clinical and scientific purposes. Class I criteria encompass myoclonic jerks without loss of consciousness exclusively occurring on or after awakening and associated with typical generalized epileptiform EEG abnormalities, with an age of onset between 10 and 25. Class II criteria allow the inclusion of myoclonic jerks predominantly occurring after awakening, generalized epileptiform EEG abnormalities with or without concomitant myoclonic jerks, and a greater time window for age at onset (6-25years). For both sets of criteria, patients should have a clear history of myoclonic jerks predominantly occurring after awakening and an EEG with generalized epileptiform discharges supporting a diagnosis of idiopathic generalized epilepsy. Patients with JME require special management because their epilepsy starts in the vulnerable period of adolescence and, accordingly, they have lifestyle issues that typically increase the likelihood of seizures (sleep deprivation, exposure to stroboscopic flashes in discos, alcohol intake, etc.) with poor adherence to antiepileptic drugs (AEDs). Results of an inventory of the different clinical management strategies are given. This article is part of a supplemental special issue entitled Juvenile Myoclonic Epilepsy: What is it Really?


Asunto(s)
Consenso , Manejo de la Enfermedad , Epilepsia Mioclónica Juvenil/diagnóstico , Epilepsia Mioclónica Juvenil/terapia , Humanos , Cooperación Internacional
20.
J Neurol ; 270(10): 4744-4752, 2023 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-37393201

RESUMEN

Historically, periodic EEG patterns were described as any pattern with stereotyped paroxysmal complexes occurring at regular intervals, i.e., the period (T). T is the sum of the duration of the waveform (t1) and, eventually, the duration of the interval between two consecutive waves (t2). The American Clinical Neurophysiology Society introduced the concept of a clearly discernible inter-discharge interval between consecutive waveforms (i.e., t2). As this definition was not applied to what have previously been termed triphasic waves and in some cases of lateralized periodic discharges, we propose reconsideration of terminology that includes historical use of definitions. This will allow the development and usage of the concept for periodic EEG patterns as any runs of stereotyped paroxysmal waveforms separated by nearly identical intervals and prolonged repetitive complexes on the EEG. Prolonged expression means EEG is recorded for a sufficient period of time to prove that the pattern is repetitive, thus resulting in a monomorphic/monotonous pattern. More important than the inter-discharge interval (t2), periodic EEG patterns occur at time regular intervals (T). As a result, periodic EEG activity should be considered along a continuum and not the opposite of rhythmic EEG activity where no interval activity exists between consecutive waveforms.


Asunto(s)
Electroencefalografía , Estado Epiléptico , Humanos , Electroencefalografía/métodos , Causalidad , Periodicidad , Unidades de Cuidados Intensivos
SELECCIÓN DE REFERENCIAS
DETALLE DE LA BÚSQUEDA