[Association between single nucleotide genetic polymorphisms in ABC transporter genes with drug-resistant epilepsy in the Spanish population].

Introduction: Almost a third of all patients with epilepsy (30%) fail to respond to pharmacological treatment. The presence of single nucleotide polymorphisms (SNPs) in the individual may influence the variability of the response to drug treatment. The transporter hypothesis posits that the presence of SNPs in the genes encoding ABC proteins would affect the bioavailability of antiseizure drugs at the epileptogenic focus, giving rise to refractoriness.

Perceived quality of life (QOLIE-31-P), depression (NDDI-E), anxiety (GAD-7), and insomnia in patients with epilepsy attended at a refractory epilepsy unit in real-life clinical practice.

Objectives: This study aims to evaluate the relationship between psychiatric comorbidity (anxiety and depression), somnolence, and quality of life, using validated scales in patients with epilepsy in real-life clinical practice and clinical and demographic variables.

Methods: A cross-sectional observational study was conducted. Self-administered scales of anxiety disorders (GAD-7), depression (NDDI-E), somnolence (Epworth Sleepiness Scale (ESS)), and quality of life (QOLIE-31-P) in patients with epilepsy treated in the refractory epilepsy unit of a tertiary hospital were employed.

Medium-term changes in patients with epilepsy during the COVID-19 pandemic.

Objectives: The novel coronavirus disease (COVID-19) pandemic has led to social distancing measures and impaired medical care of chronic neurological diseases, including epilepsy, which may have adversely affected well-being and quality of life of patients with epilepsy (PWE). The objective of this study is to evaluate the impact of the COVID-19 pandemic in the levels of anxiety, depression, somnolence, and quality of life using validated scales in PWE in real-life clinical practice.

Materials & Methods: Self-administered scales of anxiety disorders (GAD-7), depression (NDDI-E), somnolence (Epworth Sleepiness Scale; ESS), and quality of life (QOLIE-31-P) in PWE treated in a Refractory Epilepsy Unit were longitudinally analyzed.

Psychosocial repercussion of migraine: is it a stigmatized disease?

Introduction: Stigma manifests both in prejudices and rejection from society towards patients who suffer from a specific pathology, and by patient's internalization of this discrimination, with the consequent repercussions on their state of mind and quality of life. The aim of the study was to quantify the stigma associated with migraine and analyze whether it is related to the clinical-demographic characteristics of the patients, as well as the possible impact on their daily lives.

Materials And Methods: The stigma scale for chronic illness (SSCI) and other questionnaires were administered to 56 patients with episodic migraine (EM), 18 with chronic migraine (CM), and 21 with epilepsy, as a control group.

One-year clinical experience of perampanel in Spain: a multicentre study of efficacy and tolerability.

Perampanel, a non-competitive antagonist of the α-amino-3-hydroxy-5-methyl-4-isoxazole-propionic acid receptors, is the most recent antiepileptic drug available in Spain, marketed in January 2014. It was initially approved by the European Medicines Agency as adjunctive treatment for partial-onset seizures in patients 12 years and older, but recently also for primary generalized tonic-clonic seizures. Although clinical trials provide essential information about the drug, they do not reflect daily clinical practice.

Environmental risk factors for essential tremor.

We conducted a case-control study searching for a possible role of environment in the risk of essential tremor (ET). We interviewed 142 ET patients and 284 age- and sex-matched controls about a family history of ET, exposure to environmental products containing lead, mercury, manganese, solvents and beta-carbolines, and exposure to agricultural work, well water, pesticides, and cigarette smoking and alcohol drinking habits. In a univariate study, reported family history of ET and exposure to agricultural work, pesticides, smelting, frosted glass, paintings, wheat, corn, and barley were more frequent in the ET patient group.

Magnetic resonance image-reversible findings in a patient with general paresis.

Material And Methods: We describe clinical, cerebrospinal fluid (CSF), and magnetic resonance imaging (MRI) findings in a patient with general paresis. MRI demonstrated cortical-subcortical atrophy and broad-coalescent high-intensity T2 lesions in right frontotemporal lobes.

Results: After intravenous penicillin therapy, the size of these lesions diminished dramatically.

Drug-induced myoclonus: frequency, mechanisms and management.

Myoclonus is a sudden, abrupt, brief, 'shock-like' involuntary movement caused by muscular contractions ('positive myoclonus') or a sudden brief lapse of muscle contraction in active postural muscles ('negative myoclonus' or 'asterixis'). Various disorders can cause myoclonus including neurodegenerative and systemic metabolic disorders and CNS infections. In addition, myoclonus has been described as an adverse effect of some drugs.

Possible role of nondopaminergic drugs on levodopa-induced dyskinesias in Parkinson's disease.

Levodopa remains the gold standard for the treatment of Parkinson's disease. However, the long-term use of this drug often leads to the development of motor fluctuations and dyskinesias. The main strategies for the prevention and therapy of levodopa-induced dyskinesias are related to modifications of levodopa administration or the early use of dopamine agonists.

Protease inhibitor-induced carbamazepine toxicity.

Neurologic manifestations of HIV infection are quite diverse and can develop into seizures. Because new drug therapies have been developed, it is important to know the interactions between antiretroviral and antiepileptic agents. A 36-year-old patient with HIV developed a set of progressive left hemiparesis and secondarily generalized partial seizures related to progressive multifocal leukoencephalopathy.

[Reversible dementia in neurology outpatient clinics].

Introduction: The dementias are one of the commonest conditions seen in Neurology Clinics. Potentially reversible causes are described amongst the various aetiologies although there are doubts as to whether the use of indiscriminate testing to detect them is worthwhile.

Objective: In a group of demented persons to determine how many had a potentially reversible condition and how many improved, in a prospective, descriptive study in a Neurology Outpatient Clinic.

[Hypnic headache: a new case].

Introduction: Hypnic headache is a condition characterized by nocturnal episodes of headache which periodically waken the sleeping patient. They usually occur in persons over 55 years of age and are thought to be due to some type of disturbance of biological rhythm.

Clinical Case: A 70 year old woman, with no relevant past history, complained that during the previous 12-14 months she had been woken from sleep by episodes of headache.