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Genetics of Epilepsy and Refractory Epilepsy
Epilepsy affects approximately 3% of the population, and is usually defined as a tendency to experience recurrent seizures arising from periodic neuronal hyperexcitability of unknown causes. Different genetic factors, through various mechanisms, can cause this abnormal neuronal behavior. The etiology of epilepsy is a major determinant of clinical course and prognosis. Many of the genes that have been implicated in idiopathic epilepsies code for ion channels, whereas a wide spectrum of syndromes where epilepsy is a main clinical feature are caused by mutated genes that are involved in functions as diverse as cortical development, brain malformations, mitochondrial function, and cell metabolis...
Pharmacoresistance in Epilepsy
This new edition of Pharmacoresistance in Epilepsy addresses all issues relating to drug-resistance in epilepsy, including studies in patients as well in experimental models and presents the basis for an understanding of recent developments in the pathogenesis and treatment of this condition. Important issues associated with drug-resistant epilepsy are reviewed and updated, such as abnormalities in inhibitory mechanisms, neurotoxicity and changes the immune system associated with this disorder, and the development of drug-resistance as consequence of chronic exposure to antiseizure-medications. Considering that a major obstacle is that epilepsy associated with drug-resistance cannot be controlled with the traditional antiseizure medications, specific chapters describe therapeutic strategies to prevent or reduce the progression of the disease with complementary medical therapies, such as transcranial focal stimulation to promote neuroprotection. Pharmacoresistance in Epilepsy is a valuable resource for anyone working in the field, whether studying epilepsy in the lab or treating it in an office.
Epileptology
Epilepsy seems to represent one of the most frequent neurological diseases and occurs in about 1% of the general population. Although epilepsy is known since antiquity, the precise data on its pathogenesis and effective treatment are still collected and nowadays represents an interest for neurologists and psychiatrists. Being a neurological disease, epilepsy is characterized by a broad palette of comorbid psychiatric disorders (affective and anxiety disorders, psychoses) that reduce the quality of life. Moreover, the risk of suicidal attempts in persons with epilepsy is much higher than in general population that once again increases the actuality of epilepsy research in many aspects. The book contains 13 chapters written by different authors from all over the world on different topics, including phenomenology, pathogenesis, and treatment in epilepsy. The modern data on these topics may be helpful for many specialists in the domain of epileptology.
The Molecular Biology of Neurofibromatosis Type 1
Neurofibromatosis type 1 (NF1) is a common autosomal dominantly inherited, tumour predisposition syndrome affecting 1/3,000-4,000 individuals worldwide. This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. The NF1 gene contains 61 exons that give rise to 12kb mRNA encoding neurofibromin. The 327kDa (2,818 amino acid) neurofibromin protein is expressed in most tissues and has a number of alternative isoforms. Neurofibromin is a tumour suppressor protein and down-regulates cellular Ras. Increased active Ras-GTP levels also stimulate the important PI3K/AKT/mTOR signalling pathway that protects cells from apoptosis. The major clinical featues o...
Neurología Pediátrica
Transcurridos 8 años desde la 2a edición de "Neurología Pediátrica" se nos impone nuevamente actualizar el material teniendo en cuenta las crecientes innovaciones en nuestra especialidad. En realidad el índice temático no ha variado prácticamente, pero existen avances muy significativos en cada uno de los capítulos. Por ejemplo, se amplia el espectro de las bases genéticas de las enfermedades neurológicas y se incluye información sobre neurotransmisores y neuroreceptores. Los estudios por imágenes estructurales y funcionales cerebrales no dejan de sorprendernos ante cada nueva técnica. La neurología fetal y neonatal sigue su curso creativo y la detección temprana de los errore...
Pharmacoresistance in Epilepsy
Although more than 10 new antiepileptic drugs have been developed in the past decade, epilepsy remains resistant to drug therapy in about one third of patients, many of whom struggle with the disease their entire lives. Managing these patients is a challenge and requires a structured multidisciplinary approach. The book includes chapters on all issues related to pharmacoresistance in epilepsy and describes recent developments in the pathogenesis and treatment of this disorder. It addresses abnormalities in inhibitory mechanisms, epilepsy-related changes to the immune system, development of pharmacoresistance caused by chronic exposure to antiepileptic drugs, and novel therapeutic strategies ...
