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Biomedical subjects

Giuliano Avanzini

Publications and source records attributed to Giuliano Avanzini.

24 records · Page 2Linked to original sources
PubMed2003

Musicogenic seizures.

Eighty-seven reports of patients with seizures induced by listening and/or playing music and one personal observation are reviewed. Music-induced (or musicogenic) seizures are currently classified among the reflex seizures precipitated by complex stimuli. According to the available information, they are defined as focal seizures due to a discharge involving lateral and mesial temporal and orbitofrontal areas. The specific musical component responsible for seizure precipitation is still undetermined. An important role is attributed to the emotional aspect of music. The existence of this rare disorder should be borne in mind by neurologists, who should also be aware of the existing musical test batteries that may help in understanding better the nature of triggering mechanisms responsible for this unique pathological condition. The implementations of the results of ongoing investigations on brain processing of musical information will advance our understanding of the mechanisms responsible for the transition from interictal to ictal phases of epilepsy.

Epilepsy, Reflex↗
PubMed2003

Prospects for novel antiepileptic drugs.

The currently available antiepileptic drugs (AEDs) provide a satisfactory level of seizure control in up to 70% of patients with epilepsy. The rational use of these drugs implies a precise syndromic diagnosis and a good familiarity with the clinical pharmacology and tolerability of the AEDs. Significant advances in drug tolerability have occurred in the last 15 years with the development of newer antiepileptic agents that are targeted to cellular epileptogenic mechanisms and have fewer side effects. As a result of integrated molecular and neurophysiological research strategies, further advances in the pharmacological treatment of epilepsy may lead to the design of more selectively tailored AEDs, which will reduce the proportion of drug refractory patients and counteract the development of the epileptogenic process.

Animals↗
PubMed2002

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

Autosomal dominant lateral temporal epilepsy (EPT; OMIM 600512) is a form of epilepsy characterized by partial seizures, usually preceded by auditory signs. The gene for this disorder has been mapped by linkage studies to chromosomal region 10q24. Here we show that mutations in the LGI1 gene segregate with EPT in two families affected by this disorder. Both mutations introduce premature stop codons and thus prevent the production of the full-length protein from the affected allele. By immunohistochemical studies, we demonstrate that the LGI1 protein, which contains several leucine-rich repeats, is expressed ubiquitously in the neuronal cell compartment of the brain. Moreover, we provide evidence for genetic heterogeneity within this disorder, since several other families with a phenotype consistent with this type of epilepsy lack mutations in the LGI1 gene.

Alternative Splicing↗
PubMed2002

Is refractory epilepsy preventable?

About a third of the patients diagnosed with epilepsy will not be fully controlled with antiepileptic drugs (AEDs), and many of them will have frequent and disabling seizures. These patients will undergo multiple drug trials, most often without complete seizure remission. Moreover, refractory epilepsy is associated with increased morbidity (from seizures and medications), social isolation, unemployment, and overall reduced quality of life. There is evidence that refractory epilepsy can be a progressive disorder, which, if controlled early, might never develop into a full syndrome with all of its associated sequelae. The difficulty lies in identifying at an early stage patients who are likely to progress to intractability. No currently known markers enable clinicians to make this identification with confidence. Advances in pharmacogenomics and our understanding of pharmacologic responsiveness in epilepsy may change this situation. Even now, we are able to identify many patients with a poor prognosis earlier than before, particularly in the pediatric population, in which syndromic classification may provide an approach to predict intractability. The early initiation of aggressive therapy may improve outcome and overall quality of life.

Disease Progression↗
PubMed2002

AlphaCaMKII and NMDA-receptor subunit expression in epileptogenic cortex from human periventricular nodular heterotopia.

PURPOSE: Periventricular nodular heterotopia (PNH) is the most common human brain dysgenesis, very frequently characterized by focal drug-resistant epilepsy. To understand the cellular mechanisms underlying its intrinsic hyperexcitability, we investigated the expression of glutamate-receptor subunits and related proteins in four human patients affected by PNH. METHODS: PNH was diagnosed by means of magnetic resonance imaging. The epileptogenic area was revealed by depth electrode recordings and removed during epilepsy surgery. Sections from the removed cerebral tissue were analyzed by means of immunocytochemistry (ICC), with antibodies directed against N-methyl-d-aspartate (NMDA)-receptor subunits, the alpha subunit of the Ca2+/calmodulin-dependent kinase II (alphaCaMKII), and its active phosphorylated form. RESULTS: The ICC data demonstrated that the subcortical heterotopic nodules were consistently characterized by lower expression of alphaCaMKII and its activated form. In more pronounced cases (i.e., when the extension of the nodules to the neocortex determined clear layering abnormalities), the heterotopic tissue also was characterized by a decreased expression of NMDA-receptor subunits, which was particularly evident in the dendritic compartment. CONCLUSIONS: These data suggest the existence of an alteration of alphaCaMKII and the NMDA-receptor complex in the epileptogenic brain tissue of human PNH, which may play a role in the basic mechanisms of hyperexcitability associated with this brain dysgenesis.

Adult↗