RESUMO
Clinical expression of temporal lobe seizures is different with a more diverse and more extensive etiology in infants and children than it is in adults. It is dominated by cortical dysplasia, low-grade tumors and perinatal damage. Hippocampal sclerosis, although less frequent, exists in children usually as a dual pathology associated with ipsilateral neocortical lesions. The clinical semiology of temporal seizures is more varied, and sometimes misleading. Motor features including tonic, clonic or myoclonic behaviors, and infantile spasms predominate in infants. Classical complex partial seizures with behavioral arrest and automatisms, as well as lateralizing signs are rare and occur mostly with onset after the age of two years. Interestingly, aura, emotional, and autonomic signs seem to be independent on the brain maturation process. Moreover, the neuropsychological profile varies according to age of onset and duration, lateralization of the focus and etiology. Quality of care benefits from individual cognitive assessment for memory and emotional processes.
Assuntos
Encéfalo/anormalidades , Encéfalo/fisiopatologia , Epilepsia do Lobo Temporal/etiologia , Epilepsia do Lobo Temporal/patologia , Adolescente , Neoplasias Encefálicas/complicações , Criança , Pré-Escolar , Epilepsia do Lobo Temporal/fisiopatologia , Hipocampo/anormalidades , Hipocampo/fisiopatologia , Humanos , Lactente , Recém-Nascido , EscleroseRESUMO
Tuberous sclerosis complex (TSC), caused by dominant mutations in either TSC1 or TSC2 tumour suppressor genes is characterized by the presence of brain malformations, the cortical tubers that are thought to contribute to the generation of pharmacoresistant epilepsy. Here we report that tuberless heterozygote Tsc1(+/-) mice show functional upregulation of cortical GluN2C-containing N-methyl-D-aspartate receptors (NMDARs) in an mTOR-dependent manner and exhibit recurrent, unprovoked seizures during early postnatal life (Assuntos
Anticonvulsivantes/farmacologia
, Epilepsia/tratamento farmacológico
, Pirazóis/farmacologia
, Quinolonas/farmacologia
, Receptores de N-Metil-D-Aspartato/antagonistas & inibidores
, Serina-Treonina Quinases TOR/genética
, Esclerose Tuberosa/tratamento farmacológico
, Proteínas Supressoras de Tumor/genética
, Potenciais de Ação/efeitos dos fármacos
, Animais
, Modelos Animais de Doenças
, Eletroencefalografia
, Epilepsia/genética
, Epilepsia/metabolismo
, Epilepsia/patologia
, Regulação da Expressão Gênica
, Heterozigoto
, Humanos
, Masculino
, Camundongos
, Camundongos Transgênicos
, Microtomia
, Neocórtex/efeitos dos fármacos
, Neocórtex/metabolismo
, Neocórtex/patologia
, Técnicas de Patch-Clamp
, Receptores de N-Metil-D-Aspartato/genética
, Receptores de N-Metil-D-Aspartato/metabolismo
, Transdução de Sinais
, Serina-Treonina Quinases TOR/metabolismo
, Técnicas de Cultura de Tecidos
, Esclerose Tuberosa/genética
, Esclerose Tuberosa/metabolismo
, Esclerose Tuberosa/patologia
, Proteína 1 do Complexo Esclerose Tuberosa
, Proteínas Supressoras de Tumor/deficiência