26 research outputs found
A Computational Model of the LGI1 Protein Suggests a Common Binding Site for ADAM Proteins
Mutations of human leucine-rich glioma inactivated (LGI1) gene encoding the epitempin protein cause autosomal dominant temporal lateral epilepsy (ADTLE), a rare familial partial epileptic syndrome. The LGI1 gene seems to have a role on the transmission of neuronal messages but the exact molecular mechanism remains unclear. In contrast to other genes involved in epileptic disorders, epitempin shows no homology with known ion channel genes but contains two domains, composed of repeated structural units, known to mediate protein-protein interactions
Epilepsias parciais familiares Familial partial epilepsies
OBJETIVO: Investigação das caracterÃsticas clÃnicas e genéticas das epilepsias parciais familiares nos ambulatórios de epilepsia da UNICAMP. MÉTODO: História familiar foi obtida em todos os pacientes em acompanhamento, de outubro de 1997 a dezembro de 1998, e aqueles com história familiar positiva para epilepsia foram investigados em detalhe. Heredograma detalhado foi construÃdo para todas as famÃlias identificadas e história clÃnica de todos os indivÃduos possivelmente afetados foi obtida. Crises e sÃndromes epilépticas foram classificadas de acordo com as recomendações da ILAE. Sempre que possÃvel, EEG e ressonância magnética foram realizados. RESULTADOS: História familiar positiva foi identificada em 32 pacientes não relacionados. Um total de 213 indivÃduos possivelmente afetados foram identificados, dos quais 161 foram clinicamente avaliados. O número de indivÃduos afetados por famÃlia variou de dois a 23. Epilepsia de lobo temporal (ELT) foi identificada em 22 famÃlias (68%), epilepsia de lobo frontal em uma famÃlia (3%), epilepsia com espÃculas centro-temporais em cinco famÃlias (15%) e outras epilepsias parciais benignas da infância em quatro famÃlias (12%). A maioria dos indivÃduos afetados nas famÃlias com ELT (69%) apresentava caracterÃsticas clÃnicas e/ou de EEG consistentes com ELT tÃpica. Entretanto, a gravidade da epilepsia variou, com 76% dos pacientes com remissão de crises ou bom controle com medicação, e 24% com crises refratárias, incluindo 7 pacientes que foram submetidos a tratamento cirúrgico. Nas 10 famÃlias com outras sÃndromes epilépticas, identificamos 39 indivÃduos possivelmente afetados, sendo 23 avaliados clinicamente. Todos apresentavam bom controle de crises (com ou sem medicação) exceto um paciente com epilepsia frontal. Análise dos heredogramas sugeriu herança autossômica dominante com penetrância incompleta em todas as famÃlias estudadas. CONCLUSÃO: A ocorrência familiar é comum nas epilepsias parciais, tanto em adultos como em crianças. A maior parte dos casos estudados foi de pacientes com ELT e a expressão clÃnica não foi diferente da observada em casos esporádicos, predominando pacientes com bom controle de crises, apesar do caráter heterogêneo. A identificação dos genes envolvidos nos casos estudados poderá ser útil na classificação das sÃndromes epilépticas, na determinação do prognóstico e regime terapêutico mais indicado.<br>OBJECTIVE: To investigate the clinical and genetic characteristics of familial partial epilepsies. METHOD: Family history of seizures was questioned in all patients followed in our epilepsy clinics, from October 1997 to December 1998. Those with positive family history were further investigated and detailed pedigrees were obtained. All possibly affected individuals available underwent clinical evaluation. Seizures and epilepsy syndromes were classified according to the ILAE recommendations. Whenever possible, EEG and MRI were performed. RESULTS: Positive family history was identified in 32 unrelated patients. A total of 213 possibly affected individuals were identified, 161 of whom have been evaluated. The number of affected subjects per family ranged from two to 23. Temporal lobe epilepsy (TLE) was identified in 22 families (68%), frontal lobe epilepsy in one family (3%), partial epilepsy with centrotemporal spikes in five families (15%), and other benign partial epilepsies of childhood in four families (12%). Most of the affected individuals in the TLE families (69%) had clinical and/or EEG characteristics of typical TLE. However, the severity of epilepsy was variable, with 76% of patients with spontaneous seizure remission or good control with medication and 24% with refractory seizures, including 7 patients that underwent surgical treatment. In the other 10 families, we identified 39 possibly affected subjects, 23 of whom were evaluated. All had good seizure control (with or without medication) except for one patient with frontal lobe epilepsy. Pedigree analysis suggested autosomal dominant inheritance with incomplete penetrance in all families. CONCLUSION: Family history of seizures is frequent among patients with partial epilepsies. The majority of our families had TLE and its expression was not different from that observed in sporadic cases. The identification of genes involved in partial epilepsies may be usefull in classification of syndromes, to stablish prognosis and optimal treatment
All-in-one energy harvesting and storage devices
Currently, integration of energy harvesting and storage devices is considered to be one of the most important energy-related technologies due to the possibility of replacing batteries or at least extending the lifetime of a battery. This review aims to describe current progress in the various types of energy harvesters, hybrid energy harvesters, including multi-type energy harvesters with coupling of multiple energy sources, and hybridization of energy harvesters and energy storage devices for self-powered electronics. We summarize research on recent energy harvesters based on the piezoelectric, triboelectric, pyroelectric, thermoelectric, and photovoltaic effects. We also cover hybrid cell technologies to simultaneously generate electricity using multiple types of environmental energy, such as mechanical, thermal, and solar energy. Energy harvesters based on the coupling of multiple energy sources exhibit enhancement of power generation performance with synergetic effects. Finally, integration of energy harvesters and energy storage devices is introduced. In particular, self-charging power cells provide an innovative approach to the direct conversion of mechanical energy into electrochemical energy to decrease energy conversion loss