Effectiveness and safety of perampanel as early add-on treatment in patients with epilepsy and focal seizures in the routine clinical practice: Spain prospective study (PERADON).

OBJECTIVE: Perampanel (PER) has been shown to be effective as an adjunctive therapy for controlling refractory focal-onset seizures (FOS). However, the information as early add-on for the treatment of FOS in the clinical practice is still scarce and must be further assessed. METHODS: An observational prospective study was conducted to evaluate the effectiveness of early add-on PER, assessed as 50% responders (seizure frequency reduced by at least 50% during the last 3 months as compared with baseline) rate at 6 and 12 months, in patients with FOS in the routine clinical practice of Spain. RESULTS: One hundred and thirteen patients (mean age: 40.3 years, 51.3% male) with FOS received PER as early add-on (1st add-on: 37.2% and 2nd: 62.8%) for a mean exposure of 11 months (mean PER dose: 6.3 mg/day at month 12). At 6 months, 50.4% and 20.4% of the patients were responders and seizure-free (respectively) relative to baseline (3 months prior to PER initiation), and at 12 months, 68.1% and 26.5% of the patients were responders and seizure-free (respectively), relative to baseline (3 months prior to PER initiation). The retention rate at 6 and 12 months was 83.2% and 80.5%, respectively. The percentage of seizure-free patients at 12 months was significantly (p = 0.033) higher when PER was added as first vs. second add-on. The number of concomitant antiepileptic drugs (AEDs) was significantly reduced from baseline to 6 and 12 months (p = 0.001). Treatment was simplified in 23.9% of patients at the end of the observation period. Drug-related adverse events (AEs), most mild or moderate, were reported in 30.1% of patients, with irritability (8%) and dizziness (7.1%) as the most frequent ones. CONCLUSIONS: This is the first observational, prospective study to evaluate efficacy and safety of early adjunctive treatment with PER in patients with focal epilepsy at 12 months. Perampanel demonstrated a good efficacy and safety profile when used at a median dose of 6 mg/day, regardless of the combination with other AEDs. Adverse events were mild or moderate, with dizziness being the most frequent one.

Sudden unexpected death in epilepsy: Incidence at a Spanish epilepsy unit. / Muerte súbita en epilepsia: casuística de una unidad médica de epilepsia española.

INTRODUCTION: Sudden unexpected death in epilepsy (SUDEP) is the leading cause of death in patients with epilepsy. Most studies concerning this issue have been conducted in central and northern European countries and the United States. We conducted an epidemiologic study of SUDEP at our hospital's epilepsy unit. METHODS: This retrospective cohort study included all epileptic patients aged ≥14 years, regardless of epilepsy severity, who were treated at the outpatient epilepsy unit of our hospital between 2000 and 2013. The study included 2,309 patients. Deceased patients were identified using civil records. The cause of death was obtained from death certificates, autopsy reports, hospital reports, general practitioner records, and witnesses of the event. We calculated the incidence and proportional mortality of SUDEP based on our data. RESULTS: We identified 7 cases of definite SUDEP (2 patients with SUDEP plus), one case of probable SUDEP, and one case of possible SUDEP. Considering only cases of definite SUDEP, incidence was estimated at 0.44 cases per 1,000 patient-years and proportional mortality at 4.6%. Mean age of patients with definite SUDEP was 38.14 years; 4 were men and 3 were women. Most deaths occurred while patients were in bed and were therefore unwitnessed. Epilepsy in these patients was either remote symptomatic or cryptogenic. All patients but 2 had generalised seizures. None of the patients was in remission. CONCLUSIONS: SUDEP incidence and proportional mortality rates in our study are similar to those reported by population studies. This may be due to the fact that we did not select patients by severity. Risk factors for SUDEP in our sample are therefore consistent with those reported in the literature.

A novel MYH7 founder mutation causing Laing distal myopathy in Southern Spain.

MYH7 gene mutations are associated with wide clinical and genetic heterogeneity. We report a novel founder mutation in MYH7 in Southern Spain (Andalucía). We studied two index patients and 24 family members from two apparently independent families by physical examination, serum creatine-kinase, muscle MRI, sequencing studies and genetic linkage analysis. Sixteen individuals were heterozygous for a (p.R1560P) variant in the MYH7 gene. Haplotype was consistent with a common ancestor for the two families. The patients displayed the classic Laing distal myopathy phenotype, with hanging first toe as the initial presentation, even in mildly affected patients who declared themselves asymptomatic, although neck flexor weakness was revealed as an early sign in some cases. MRI showed that the sartorius was the first muscle involved, even in two out of three asymptomatic carriers. Our findings support the novel variant p.R1560P in MYH7 as a founder mutation in Andalucía. The early involvement of the sartorius muscle in MRI may be useful as an indicator of affection status.

[Healthcare management of an epilepsy clinic: factors involved in the demand for health care and clinical situation of patients]. / Gestion sanitaria de una consulta de epilepsia: factores implicados en la demanda asistencial y situacion clinica de los pacientes.

INTRODUCTION: Epilepsy is a chronic illness that requires a long-term periodic follow-up of the patient and this means that as time goes by the number of patients attended increases, with the ensuing added cost for the healthcare system. AIM: To determine the factors involved in the time until an epileptic patient's next visit. PATIENTS AND METHODS: Our sample consisted of a selection of patients who visited the epilepsy clinic at our hospital consecutively during one year. Their clinical situation and relationship with the medical advice they were given, together with the factors involved in the time elapsed until the next visit, were analysed by means of predictive econometric models. RESULTS: There is a clear association between the patient's clinical situation and the modification of the treatment proposed by the neurologist in the previous visit. The factors involved in the time until the next visit were the frequency of seizures, adverse side effects from medicines -above all those that affect cognition- and the medical advice given to the patient. Polytherapy, psychoaffective disorders or the patient's social situation were not found to be significant. CONCLUSIONS: Follow-up visits in a specific epilepsy clinic improves the patient's situation. This is the first analysis of the demand for healthcare in patients with epilepsy conducted by means of econometric methods and from a mixed physician-patient perspective. Since the factors that determine the time until the next visit can be modified, the number of visits per year could be reduced, thus improving patients' clinical situation. We suggest a greater amount of time should be spent per visit so as to be able to have a bearing on it and thereby cut costs in the long term.

TITLE: Gestion sanitaria de una consulta de epilepsia: factores implicados en la demanda asistencial y situacion clinica de los pacientes.Introduccion. La epilepsia es una enfermedad cronica que implica un seguimiento periodico del paciente a largo plazo, lo que supone un aumento del numero de pacientes visitados con el tiempo y, por tanto, un coste al sistema sanitario. Objetivo. Determinar los factores implicados en el tiempo para la siguiente visita de un paciente epileptico. Pacientes y metodos. Seleccion de pacientes durante un ano que acuden consecutivamente a consulta de epilepsia de nuestro hospital. Se analiza su situacion clinica y relacion con el consejo medico dado, y los factores implicados en el tiempo transcurrido hasta la siguiente visita mediante modelos econometricos predictivos. Resultados. Existe una clara asociacion entre la situacion clinica del paciente y la modificacion del tratamiento propuesta por el neurologo en la visita anterior. Los factores implicados en el tiempo hasta la siguiente visita fueron frecuencia de crisis, efectos adversos medicamentosos, sobre todo los que afectan a la cognicion, y consejo medico al paciente. No resultaron significativos la politerapia, los trastornos psicoafectivos ni la situacion social del paciente. Conclusiones. El seguimiento en una consulta especifica de epilepsia mejora la situacion del paciente. Se trata del primer analisis de demanda asistencial en pacientes con epilepsia realizado mediante metodos econometricos y desde una perspectiva mixta medico-paciente. Dado que los factores que determinan el tiempo para la siguiente visita son modificables, podria disminuir el numero de visitas al ano, mejorando la situacion clinica de los pacientes. Proponemos una mayor duracion por visita para poder incidir en ello y reducir costes a largo plazo.

Prevalence and clinical characteristics of epilepsy in the South of Spain.

PURPOSE: Epilepsy is a common neurological disorder found in all societies. There are extensive epidemiologic studies of different European areas. However, not much information about the South-West of Europe exists. In Málaga, Health Care is free and there are only two public hospitals with Neurological Services that assist Eastern or Western areas depending on the case. The purpose is to estimate the epidemiology in Málaga through a hospital-based study and compare it to the other European studies. METHODS: Review on the hospital data base and gathering of consecutive patients with a diagnosis of active epilepsy served by the Epilepsy outpatient clinic in Virgen de la Victoria Hospital throughout a year. RESULTS: 2 281 patients fulfilled the criteria and 515 patients were recruited in order to study the epidemiologic characteristics. Male gender and focal onset seizures predominate (75.5%). Medium age 40. 58% of patients have been seizure-free in the last year. Known etiology in half of the patients. 54% of patients are treated with monotherapy. Valproic acid is the commonest drug. Other epidemiologic and demographic important data are provided. Data are analysed and compared to other European studies. CONCLUSIONS: Prevalence rate in Western Málaga is 4.79 cases/1000 inhabitants. Characteristics of the sample are similar to those of other European studies. Although this is a hospital-based study, the particular characteristics of the Health Care System in our region enable us to gather real data concerning epidemiology and prevalence.

[Does Jeavons syndrome exist? A report of a series of 10 cases]. / Existe el síndrome de Jeavons? Aportación de una serie de 10 casos.

INTRODUCTION: Jeavons syndrome (JS) or eyelid myoclonia (EM) with or without absences is an epileptic syndrome characterised by EM on closing the eyes, in bright environments, which coincides on the electroencephalogram with brief generalised polyspike and polyspike-wave discharges at 3-6 Hz. Photoparoxysmal response is associated in photostimulation. The ILAE recognises EM as a special type of myoclonic seizures, yet it still does not include JS as a separate condition in its classification of epileptic syndromes. AIM: The aim of this article is to report on a series of 10 cases, with special attention given to their clinical-electro-encephalo-graphic description. We believe it is a condition that is not infrequent, but one which is underdiagnosed. Moreover, we also want to highlight the pros and cons determining the fact that today there is still controversy about whether or not it should be recognised as an independent epileptic syndrome. PATIENTS AND METHODS: We conducted a retrospective study of 10 cases collected over the period between 2002 and 2009 in our adult Epilepsy Unit. RESULTS: All our patients fulfilled JS criteria. There is a predominance of females (n = 8), with the existence of cases of idiopathic generalised epilepsy in the family (n = 5), which are associated with clonic-tonic generalised seizures in nearly all of them (n = 9) and are well controlled with treatment in monotherapy, although the EM persist in three cases. The results of a neurological exploration and neuroimaging are normal in all cases. CONCLUSIONS: JS is a photosensitive epilepsy that is not easily confused with other conditions; nevertheless, there can be an overlap with other idiopathic generalised epilepsy syndromes that lead to their being underdiagnosed. Genetics and functional neuroimaging will determine whether it is an independent condition or not.

[Neurophysiology in status epilepticus]. / El estudio neurofisiológico en los estados epilépticos.

Cases of status epilepticus (SE) require rapid diagnosis and treatment, including simultaneous, coordinated clinical and neurophysiological assessment. The EEG is the essential diagnostic support that confirms the presence of SE and allows for its differentiation from other processes, and the characterization of type and evolutionary phase, while elucidating situations such as covert SE and nonconvulsive SE whose clinical expression is scarce and diagnosis and management difficult. Finally, EEG monitoring serves to guide treatment and recognize when crises have passed, evaluate drug response and monitor the differed evolutionary control of SE.