Rafael Camino-León

Learn More
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency is an inborn error of neurotransmitter metabolism, with a prevalence of 0.5 per million, caused by mutations/deletions in the GCH1 gene. The finding of the mutation Q89X in the GCH1 gene in 23 patients from two pedigrees in an area inhabited by a population of 800,000 prompted us to(More)
Segawa disease is a rare dystonia due to autosomal dominant guanosine triphosphate cyclohydrolase I (adGTPCH) deficiency, affecting dopamine and serotonin biosynthesis. Recently, the clinical phenotype was expanded to include psychiatric manifestations, such as depression, anxiety, obsessive-compulsive disorder, and sleep disturbances. Although cognitive(More)
AIM To determine the state of knowledge and use of the main sources of bibliographic information and Web 2.0 resources in a sample of pediatricians linked professionally to child neurology. SUBJECTS AND METHODS Anonymous opinion survey to 44 pediatricians (36 neuropediatric staffs and 8 residents) with two sections: sources of bibliographic information:(More)
INTRODUCTION The Aicardi syndrome is a disorder presumably X-linked dominant, classically defined by the triad of agenesis of the corpus callosum, chorioretinal lacunae and infantile spasms, with lethality in males. PATIENTS AND METHODS Retrospective descriptive study of patients diagnosed with Aicardi syndrome over a period of 29 years in two tertiary(More)
BACKGROUND Infant botulism (IB) is caused by the intestinal colonization by Clostridium botulinum in the first year of life and its subsequent production of neurotoxins. Traditionally, IB has been associated to honey consumption. IB cases tend to cluster in geographic regions. In Europe, IB is a rare disorder. From 1976 through 2006, 65 cases were(More)
AIMS The objective of this work was to produce a scientific evidence-based guide to clinical practice dealing with the basic questions concerning the treatment of epilepsy. DEVELOPMENT A committee of 11 experts belonging to the Andalusia Epilepsy Society, made up of six neurologists, three neuropaediatricians, one neurosurgeon and a pharmacologist, all of(More)
INTRODUCTION The neuronal ceroid lipofuscinosis are classified based on age at onset into four main clinical forms in child-hood: infantile, late infantile, juvenile and congenital (CLN1, CLN2, CLN3 and CLN10). The variant late infantile forms (CLN5, CLN6, CLN7 and CLN8) are characterized by a wide variability of the clinical phenotypes and the most(More)
AIMS The objective of this work was to produce a scientific evidence-based guide to clinical practice dealing with the basic questions concerning the treatment of epilepsy. DEVELOPMENT A committee of 11 experts belonging to the Andalusia Epilepsy Society, made up of six neurologists, three neuropaediatricians, one neurosurgeon and a pharmacologist, all of(More)
AIMS The objective of this work was to produce a scientific evidence-based guide to clinical practice dealing with the basic questions concerning the treatment of epilepsy. DEVELOPMENT A committee of 11 experts belonging to the Andalusia Epilepsy Society, made up of six neurologists, three neuropaediatricians, one neurosurgeon and a pharmacologist, all of(More)