RESUMEN
Most families with genetic epilepsy with febrile seizures plus show a mutation in the sodium channel alpha 1 subunit gene, however, but there is much phenotypic heterogeneity and focal epilepsy remains relatively rare. Here, we report a family with electroclinical features indicative of temporal-parietal-occipital carrefour epilepsy with common occurrence of post-ictal migraine. We studied a four-generation family including nine affected subjects by means of EEG and MRI. Genetic testing was performed by targeted re-sequencing (gene panel). In most patients, seizure semiology included cognitive, autonomic, and emotional symptoms, eventually evolving towards sensory visual phenomena. Focal sensory vestibular seizures and changes in body perception were also reported in some cases. Post-ictal migraine was common, occurring in five out of the six (83%) epilepsy patients. A missense mutation (c.1130 G>A; p.R377Q) affecting the S5-S6 segment (pore region) of the sodium channel alpha 1 subunit was identified in all affected and four unaffected subjects. Temporal-parietal-occipital carrefour epilepsy is part of the genetic epilepsy with febrile seizures plus spectrum. The electroclinical features in this family support the involvement of a genetically impaired neural network. High prevalence of post-ictal migraine suggests the role of posterior brain areas in the clinical expression of this gene defect.
Asunto(s)
Epilepsia , Canal de Sodio Activado por Voltaje NAV1.1/genética , Convulsiones Febriles , Epilepsia Generalizada/genética , Humanos , Trastornos Migrañosos/genética , Mutación , Mutación Missense , Linaje , Convulsiones Febriles/genéticaRESUMEN
OBJECTIVE: To compare cognitive profiles of occipital lobe epilepsy (OLE) and temporal lobe epilepsy (TLE) and to investigate whether impairment of visuospatial functions is a specific deficit of OLE. METHOD: Eighteen patients with OLE, 18 patients with TLE, and 18 controls underwent a neuropsychological battery assessing memory, visuospatial functions, and frontal/executive functions. RESULTS: Multivariate analysis evidenced poorer performance of patients with TLE and patients with OLE relative to controls on tasks assessing verbal and non-verbal long-term memory, frontal functions, and visuospatial functions. Patients with OLE had poorer performance than patients with TLE on visuospatial tasks, whereas patients with TLE performed worse than patients with OLE on verbal long-term memory test. Discriminant analysis identified two canonical discriminant functions: The first explained 53.3% of the variance, and the second explained 46.7% of the variance. The first function included verbal and non-verbal memory tests distinguishing controls from both OLE and TLE, whereas the second factor including a visuoconstructional test distinguished OLE from TLE and controls. CONCLUSIONS: The results demonstrate that visuoconstructional dysfunction is related to OLE and support the idea that alterations of occipito-parietal stream may be specific to patients with OLE.
Asunto(s)
Trastornos del Conocimiento/etiología , Epilepsias Parciales/complicaciones , Epilepsia del Lóbulo Temporal/complicaciones , Adulto , Trastornos del Conocimiento/diagnóstico , Función Ejecutiva/fisiología , Femenino , Humanos , Masculino , Memoria/fisiología , Trastornos de la Memoria/etiología , Persona de Mediana Edad , Análisis Multivariante , Pruebas Neuropsicológicas , Percepción Visual/fisiología , Adulto JovenRESUMEN
The authors review the literature for cases fulfilling the criteria for the proposed idiopathic generalized epilepsy syndrome (IGE) of absence status epilepsy described by Genton et al. (2008). Difficulties arising in diagnosing such cases are remarked, and possible overlapping with other proposed IGE syndromes is discussed.
RESUMEN
To explore the neuropsychological and neurobehavioral profile in adult patients affected by nonsymptomatic (cryptogenic and idiopathic) occipital lobe epilepsy (OLE), with normal intelligence, we enrolled 20 adult patients with nonsymptomatic OLE and 20 age-, sex-, and education-matched healthy subjects. All participants underwent neuropsychiatric assessment scales, and standardized neuropsychological tests tapping memory, executive functions, constructional, visuospatial and visuoperceptual skills. After Bonferroni correction for multiple comparisons, patients performed significantly worse than controls on several tests tapping complex visuospatial skills and frontal lobe functions. The analysis of single patients' performance revealed that a significantly higher number of OLE patients achieved age- and education-adjusted pathological scores on three tests (Benton Judgment of Line Orientation Test, Freehand Copying of Drawings Test, color-word interference task of Stroop test) with respect to controls. Patients did not differ from control subjects on neuropsychiatric aspects. The direct comparison between OLE subtypes showed that cryptogenetic OLE patients tended to achieve lower scores than idiopathic OLE patients on most tests, but no difference between the two groups was fully significant. In summary, patients with nonsymptomatic OLE can be affected by clinically relevant impairments in selected neuropsychological domains: complex visuospatial skills and executive functions. It could be speculated that frontal and visuospatial cognitive deficits might be the result of epileptic activity spreading within a neural network that includes structures far beyond the occipital lobe.
Asunto(s)
Síntomas Conductuales/etiología , Trastornos del Conocimiento/etiología , Epilepsias Parciales/complicaciones , Pruebas Neuropsicológicas , Adolescente , Adulto , Estudios de Casos y Controles , Trastornos del Conocimiento/diagnóstico , Electroencefalografía , Femenino , Humanos , Masculino , Persona de Mediana Edad , Escalas de Valoración Psiquiátrica , Estadística como Asunto , Estadísticas no Paramétricas , Adulto JovenRESUMEN
BACKGROUND: The aim of this study was to evaluate efficacy and tolerability of levetiracetam (LEV) in patients with different epilepsy syndromes. METHODS: We evaluated epileptic patients seen in the previous 18 months, including all patients with present or past exposure to LEV. Tolerability of LEV therapy was evaluated in all patients; efficacy was evaluated only in patients who had received LEV for at least six months. Two hundred and two patients were included in the study. Patients were considered responsive when showing a > 50% reduction in seizures frequency and non-responders when seizure frequency was unchanged, worsened or showed a reduction < 50%. RESULTS: Thirty patients did not complete six months of LEV treatment and dropped out. 57.4% of the patients with uncontrolled seizures treated for at least six months were responders, with 27.7% seizure free. Adverse effects were observed in 46 patients (23%) and were responsible for early drop out in 26. Adverse effects occurred significantly more often in females than in males (30.6% vs 13.2%); moreover, nearly 30% of women with adverse effects complained of more than one adverse effect, while this was never observed in male patients. CONCLUSIONS: Our study shows LEV as a well tolerated and effective treatment, both in monotherapy and as an add-on. Further investigations on larges samples are needed to investigate the issue of gender-related tolerability.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Piracetam/análogos & derivados , Adolescente , Adulto , Anciano , Anciano de 80 o más Años , Niño , Femenino , Estudios de Seguimiento , Humanos , Levetiracetam , Modelos Logísticos , Masculino , Persona de Mediana Edad , Piracetam/uso terapéutico , Estudios Retrospectivos , Resultado del Tratamiento , Adulto JovenRESUMEN
We describe the ictal [(18)F]FDG-PET study of a case of absence status showing bilateral thalamic hypermetabolism and frontal cortex hypometabolism. This is the first ictal assessment of absence status by [(18)F]FDG-PET reporting this particular cortical and subcortical involvement. Our findings support the theory of corticothalamic circuitry involvement in the pathophysiology of absence seizures and stress the similarities of the clinical and metabolic pattern observed during absences with the pattern of task-induced interruption of the default state of brain function.
Asunto(s)
Epilepsia Tipo Ausencia/diagnóstico por imagen , Epilepsia Tipo Ausencia/fisiopatología , Fluorodesoxiglucosa F18 , Tomografía de Emisión de Positrones/métodos , Radiofármacos , Corteza Cerebral , Humanos , Interpretación de Imagen Asistida por Computador , Masculino , Persona de Mediana Edad , TálamoRESUMEN
Transient epileptic amnesia (TEA) is a distinct neurologic condition occurring in late-middle/old age and presenting with amnesic attacks of epileptic nature and interictal memory disturbances. For many years this condition has been associated with the nonepileptic condition of transient global amnesia (TGA) and still today is poorly recognized by clinicians. Despite the clinical and laboratory findings that distinguish TEA from TGA, differential diagnosis may be difficult in the individual patient. Every effort must be employed for an early diagnosis, since antiepileptic treatment may readily control both ictal episodes and memory disturbances.
Asunto(s)
Amnesia/epidemiología , Epilepsia/epidemiología , Edad de Inicio , Anciano , Amnesia/diagnóstico , Diagnóstico Diferencial , Errores Diagnósticos , Electroencefalografía , Epilepsia/diagnóstico , Humanos , SíndromeRESUMEN
Valproate (VPA) is a highly effective drug successfully employed in several neuropsychiatric diseases. In the last 15 years, an increased prevalence of polycystic ovary syndrome (PCOS) associated with VPA use has been reported in both women with epilepsy and women with bipolar disorders. However, data on this subject are contrasting and it is possible that different factors might play a role in the development of PCOS in these patients. The risk of developing PCOS during VPA treatment seems to be higher in women with epilepsy than in women with bipolar disorders, and this might be due to an underlying neuroendocrine dysfunction related to the seizure disorder. Gynecologists must be aware of the possibility that PCOS in these populations of patients might be related to VPA use, and a careful multi-specialist approach is required for evaluating the risks and benefits of this treatment in the presence of features of PCOS.
Asunto(s)
Trastorno Bipolar/tratamiento farmacológico , Epilepsia/tratamiento farmacológico , Síndrome del Ovario Poliquístico/epidemiología , Ácido Valproico/uso terapéutico , Antimaníacos/uso terapéutico , Trastorno Bipolar/epidemiología , Epilepsia/epidemiología , Femenino , Humanos , Síndrome del Ovario Poliquístico/inducido químicamente , Síndrome del Ovario Poliquístico/etiología , Prevalencia , Factores de Riesgo , Ácido Valproico/efectos adversosRESUMEN
OBJECTIVES: To evaluate levetiracetam (LEV) tolerability in patients with epilepsy and liver disease. METHODS: Fourteen patients with epilepsy and concomitant liver disease were treated with LEV in an open prospective investigation mimicking the daily clinical practice. All patients were stabilized (ie, for at least 1 year) on traditional antiepileptic drugs with complete or partial control of seizures. In the 6-month pre-LEV baseline period, seizure frequency ranged from 3 to 300. Levetiracetam was added on to the basal treatment at a starting daily dose of 250 mg, and the dose was adjusted according to the tolerability and the therapeutic response. Four patients discontinued the drug within the first 3 months because of intolerable side effects. The remaining 10 continued LEV treatment, and the present follow-up is 12 to 38 months. RESULTS: In the last 6 months of observation, none of the patients showed worsening of liver function on the basis of blood chemistry, and in 4 patients, a complete normalization or a trend toward physiological values of transaminase and/or gamma-glutamyltransferase activity was observed. A greater than 50% reduction in seizure frequency occurred in all uncontrolled patients, 2 of whom achieved seizure freedom during LEV treatment. CONCLUSIONS: Based on these observations, LEV seems to be an attractive therapeutic option in epileptic patients with chronic liver diseases.
Asunto(s)
Anticonvulsivantes/uso terapéutico , Epilepsia/tratamiento farmacológico , Hepatitis Viral Humana/tratamiento farmacológico , Cirrosis Hepática/tratamiento farmacológico , Piracetam/análogos & derivados , Convulsiones/tratamiento farmacológico , Alanina Transaminasa/sangre , Aspartato Aminotransferasas/sangre , Enfermedad Crónica , Epilepsia/sangre , Epilepsia/complicaciones , Hepatitis Viral Humana/sangre , Hepatitis Viral Humana/complicaciones , Humanos , Levetiracetam , Cirrosis Hepática/sangre , Cirrosis Hepática/complicaciones , Pruebas de Función Hepática , Piracetam/uso terapéutico , Estudios Prospectivos , Convulsiones/sangre , Convulsiones/etiología , gamma-Glutamiltransferasa/sangreRESUMEN
We report the case of a 50-year-old male patient with idiopathic generalised epilepsy and porphyria cutanea tarda. Valproic acid and phenobarbital monotherapy controlled seizures but exacerbated porphyric symptomatology, while clobazam, clonazepam and lamotrigine monotherapy were well tolerated as regards porphyric disturbances but did not completely control seizures. Tonic- clonic seizures were eventually controlled by a combination of clonazepam (9 mg/day) and lamotrigine (150 mg/day), but absences persisted and this treatment caused significant adverse effects consisting of sedation and memory disturbances. Levetiracetam monotherapy (3 g/day) was accompanied by complete control of seizures; memory disturbances and sedation also resolved, and no porphyrinogenetic activity of levetiracetam was observed. This is the first report of the safe use of levetiracetam in porphyria cutanea tarda.
Asunto(s)
Epilepsia Tónico-Clónica/tratamiento farmacológico , Piracetam/análogos & derivados , Porfiria Cutánea Tardía/tratamiento farmacológico , Administración Oral , Anticonvulsivantes/administración & dosificación , Anticonvulsivantes/uso terapéutico , Clonazepam/administración & dosificación , Clonazepam/uso terapéutico , Quimioterapia Combinada , Epilepsia Tónico-Clónica/complicaciones , Humanos , Lamotrigina , Levetiracetam , Masculino , Persona de Mediana Edad , Nootrópicos/administración & dosificación , Nootrópicos/uso terapéutico , Piracetam/administración & dosificación , Piracetam/uso terapéutico , Porfiria Cutánea Tardía/complicaciones , Factores de Tiempo , Resultado del Tratamiento , Triazinas/administración & dosificación , Triazinas/uso terapéuticoRESUMEN
Overrepresentation of polycystic ovary syndrome (PCOS) in women with epilepsy has been described since the early 1980s. While some authors attribute this association to an effect of the seizure disorder on the hypothalamic control of reproductive function, others have reported a relationship with the use of the antiepileptic drug valproic acid (VPA). In this article we review the literature on this complex issue, with a detailed analysis of the different reports which describe the reproductive endocrine assessment in women with epilepsy. In spite of the large number of patients assessed, a clear picture does not emerge, mostly because of the wide variability of methodology employed in the different study projects and of the small size of many patient samples especially when divided in subgroups. However, on the whole these studies suggest that women with epilepsy are at risk for developing reproductive endocrine disorders, even if there is not yet definite evidence that PCOS may be over-represented in these patients nor that VPA may be the cause of endocrine problems. It is likely that both the epileptic disorder and the antiepileptic treatment play different roles in the development of such disturbances. This hypothesis deserves further prospective study in large samples of patients; consistency in methodology, diagnostic criteria and presentation of results should always be encouraged in the researchers dealing with these projects. In the meantime, women with epilepsy should be carefully monitored with regard to menstrual function, bodyweight and hyperandrogenism, and evaluation of these parameters should become part of the routine evaluation in baseline and follow-up consultations.
Asunto(s)
Anticonvulsivantes/efectos adversos , Epilepsia , Trastornos de la Menstruación , Síndrome del Ovario Poliquístico , Ácido Valproico/efectos adversos , Adolescente , Adulto , Ensayos Clínicos como Asunto , Epilepsia/complicaciones , Epilepsia/tratamiento farmacológico , Femenino , Humanos , Trastornos de la Menstruación/complicaciones , Trastornos de la Menstruación/fisiopatología , Síndrome del Ovario Poliquístico/inducido químicamente , Síndrome del Ovario Poliquístico/complicaciones , Síndrome del Ovario Poliquístico/epidemiología , PrevalenciaRESUMEN
AIM: To identify, among patients referred to our Epilepsy Center, those fulfilling eyelid myoclonia with absences (EMA) criteria and to evaluate their semiological, electroclinical and evolutive features. In addition, to examine some possible causes of underdiagnosis and to stress the role of video-EEG (VEEG) recording. MATERIALS AND METHODS: Retrospective analysis of 2780 epileptic patients. INCLUSION CRITERIA: Eyelid myoclonia and brief absences, related to EEG generalized paroxysmal activity and triggered by eye closure and/or by intermittent photic stimulation. RESULTS: 7.46% of our patients with idiopathic generalized epilepsy (IGE) could be classified as EMA. Female/male ratio was 1.7:1. Familial history of epilepsy was present in about half of the patients, with two pairs of identical twins in the sample. Rare generalized tonic-clonic seizures occurred in most cases. CONCLUSIONS: EMA is a not infrequent condition among IGEs. It is likely to be underdiagnosed due to the subtle clinical semiology and to masking of EEG changes by the effects of age and anti-epileptic drugs. VEEG analysis is often needed for diagnosis of EMA. Most likely, only genetic research will be able to clarify whether EMA is a distinct epileptic syndrome.
Asunto(s)
Epilepsias Mioclónicas/diagnóstico , Mioclonía/diagnóstico , Adolescente , Adulto , Niño , Preescolar , Electroencefalografía , Epilepsias Mioclónicas/complicaciones , Epilepsias Mioclónicas/fisiopatología , Femenino , Humanos , Masculino , Mioclonía/complicaciones , Mioclonía/fisiopatología , Estudios Retrospectivos , Grabación en VideoRESUMEN
PURPOSE: To describe the clinical history of patients with gelastic seizures (GSs) related to small-size hypothalamic hamartomas (HHs), and to show some of these unusual seizures. MATERIAL AND METHODS: Patients with GSs and the MRI finding of HH < 1 cm diameter. Ictal EEG or video EEG are required. RESULTS: Three patients, among 6 with GSs and HH, had a small sessile HH. None of them had a history of precocious puberty, nor any relevant cognitive defects. All patients suffered from other seizure types, in addition to GSs. GSs were drug-resistant in all cases. CONCLUSION: since small, not easily recognizable HHs may be present in patients with GSs, a careful MRI study of the hypothalamic, infundibular and mammillary bodys areas is mandatory in these cases [published with videosequences].