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1.
Child Neurol Open ; 8: 2329048X211050711, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34692895

RESUMO

Dravet syndrome is a genetic developmental and epileptic encephalopathy (DEE) mostly due to mutations in SCN1A gene. Perampanel is a selective and non-competitive alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid (AMPA) receptor antagonist. There is increasing experience in the use of perampanel in this syndrome; however, there is still a lack of evidence of sustained benefit years after the beginning of the treatment. We report a twelve-year-old girl who was diagnosed with Dravet Syndrome when she was 2 years old and has been on perampanel since she was 7. Her genetic test showed a de novo previously described heterozygous SCN1A mutation in the 24th exon (c.4547C>A, p.Ser1516*). She received previous antiseizure drug combinations with little benefit. When perampanel was started, there was a complete resolution of her spontaneous seizures that has continued five years later. More studies are needed to investigate if there is an association between this excellent response and the genotype of our patient.

2.
Epilepsy Behav ; 79: 130-137, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29287216

RESUMO

BACKGROUND: Seizures in up to 30% of children with epilepsy become refractory to treatment, decreasing their quality of life. Studies suggest that lacosamide may be effective in pediatric patients with refractory epilepsy. AIMS: To assess the effectiveness and safety of lacosamide in a population of children with mostly focal refractory epilepsy. METHODS: Retrospective analysis of children aged <18years presenting to a single hospital in Spain. Data from baseline, and 3, 6, and 12months after lacosamide initiation were collected and analyzed. Response to lacosamide was categorized by seizure frequency (seizure freedom or ≥75%, ≥50%, and <50% reduction in seizures). RESULTS: One hundred ninety-one pediatric patients (~55% male) with focal epilepsy treated with lacosamide were included. The mean age at lacosamide initiation was 9.4years, and the mean duration of epilepsy was 5.4years. Seizure-free rates at 3, 6, and 12months were 9.7%, 11.8%, and 16.0%. At 12months, 44.4% of the population had a ≥50% reduction in seizure frequency. When analyzing response according to the number of previous/concomitant AEDs, those patients who received ≤2 previous AEDs/fewer concomitant AEDs had significantly greater response rates than those who received greater numbers of previous/concomitant AEDs; however, no predictive factors for response were identified. The most common adverse events were seizure number increased (14.7%), diplopia (5.2%), dizziness (3.7%), ataxia (2.1%), and drowsiness (2.1%). CONCLUSIONS: Lacosamide use in children with refractory focal epilepsy can result in a reduction in seizure rate that improves progressively over time with few adverse effects, making lacosamide a promising option in these patients.


Assuntos
Anticonvulsivantes/uso terapêutico , Lacosamida/uso terapêutico , Adolescente , Anticonvulsivantes/efeitos adversos , Ataxia/induzido quimicamente , Criança , Tontura/induzido quimicamente , Epilepsia Resistente a Medicamentos/tratamento farmacológico , Epilepsias Parciais/tratamento farmacológico , Feminino , Humanos , Lacosamida/efeitos adversos , Masculino , Qualidade de Vida , Estudos Retrospectivos , Convulsões/tratamento farmacológico , Espanha , Resultado do Tratamento
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