Everolimus as adjunctive treatment in tuberous sclerosis complex-associated epilepsy in children.

CONCLUSIONS: Early data on everolimus as an adjunctive treatment in TSC-associated epilepsy are promising with regards to both effect and tolerability. FUNDING: none. TRIAL REGISTRATION: not relevant. PMID: 31791480 [PubMed - in process]
Source: Danish Medical Journal - Category: General Medicine Tags: Dan Med J Source Type: research

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ConclusionThe design and implementation of more scalable methods to disseminate research remotely can substantially improve access to clinical trials in rare neurodevelopmental disorders. The lessons learned from this trial can serve as a model for future studies not only in rare conditions, but in other populations that lack adequate access, such as families with limited financial or clinical resources. Continued efforts will further refine delivery methods to enhance efficiency and ease of these delivery systems for families.
Source: Journal of Neurodevelopmental Disorders - Category: Neurology Source Type: research
Source: European Journal of Nuclear Medicine and Molecular Imaging - Category: Nuclear Medicine Source Type: research
AbstractTuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a common and early presenting symptom. The neurological phenotype, however, is variable and unpredictable. Early and refractory seizures, infantile spasms in particular, are associated with a poor neurological outcome. Preliminary data suggests early and aggressive seizure control may mitigate the detrimental neurodevelopmental effects of epilepsy. For infantile spasms, vigabatrin is the first line of treatment, and steroids and classic antiepileptic drugs (AEDs) are suitable for second line. Based on retrospective data, vigabatr...
Source: Pediatric Drugs - Category: Pediatrics Source Type: research
Abstract Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder with epilepsy as a common and early presenting symptom. The neurological phenotype, however, is variable and unpredictable. Early and refractory seizures, infantile spasms in particular, are associated with a poor neurological outcome. Preliminary data suggests early and aggressive seizure control may mitigate the detrimental neurodevelopmental effects of epilepsy. For infantile spasms, vigabatrin is the first line of treatment, and steroids and classic antiepileptic drugs (AEDs) are suitable for second line. Based on retrospective data...
Source: Paediatric Drugs - Category: Pediatrics Authors: Tags: Paediatr Drugs Source Type: research
Conclusions: Lesion-constrained electrical source imaging on low-resolution EEG data provides complementary information in the presurgical workup for patients with tuberous sclerosis complex, although further validation is required. In the appropriate clinical context, the yield of source localization on low-resolution EEG data may be increased by reduction of the solution space.
Source: Journal of Clinical Neurophysiology - Category: Neurology Tags: Original Research Source Type: research
ConclusionsAs a real-world pediatric case series, our study demonstrated the efficacy and tolerability of perampanel in young children with intractable epilepsy. In our experience, lower starting and maintenance dose of perampanel would be effective in the pediatric group. We also propose the use of perampanel as an effective therapy for epilepsy in children with TSC and Dravet syndrome.
Source: Seizure - Category: Neurology Source Type: research
ConclusionsProgrammed cell death ligand 1 checkpoint therapy may be effective for recurrence of triple-negative breast cancer in a patient with autosomal dominant polycystic kidney disease and tuberous sclerosis complex.
Source: Journal of Medical Case Reports - Category: General Medicine Source Type: research
Epilepsy is the most common neurological disorder in children. The prevalence of epilepsy ranges from 3 to 5 per 1000 children in developed countries, and the incidence is about 41 to 187/100,000 person-years [1]. Previous studies have shown the incidence of epilepsy to be highest in the first year of life, ranging from 81 to 130/100,000 [1]. Of those with epilepsy, about 10% of children have drug-resistant epilepsy [2]. The common etiologies of drug-resistant epilepsy can be very diverse, including epilepsy syndromes (e.g., West syndrome and Lennox –Gastaut syndrome), genetic epilepsy (like tuberous sclerosis, TSC),...
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Source Type: research
ConclusionAnalysis of language variables and epilepsy characteristics from 6 to 36 months and ASD diagnosis at 36 months revealed significant relationships between all three variables. While the direction of these relationships needs further research, epilepsy, language, and the development of ASD are integrally related in young children with TSC.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Genetic Testing and Molecular Biomarkers, Ahead of Print.
Source: Genetic Testing and Molecular Biomarkers - Category: Genetics & Stem Cells Authors: Source Type: research
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