A diagnostic algorithm for enhanced detection of mosaic tuberous sclerosis complex in adults.

This article is protected by copyright. All rights reserved. PMID: 31287558 [PubMed - as supplied by publisher]
Source: The British Journal of Dermatology - Category: Dermatology Authors: Tags: Br J Dermatol Source Type: research

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García-Peñas JJ Abstract It is estimated that about 70 million people all over the world suffer from epilepsy, half of which are children, in whom the prevalence is around 0.5 to 0.8%. Although there are several therapies, the treatment of epilepsy is based mainly on drugs, which, depending on the year of coming onto the market are classified as first, second, or third generation. In this article, a description is presented on the main characteristics of the latest generation of anti-epileptic drugs (lacosamide, eslicarbazepine acetate, brivaracetam, perampanel, retigabine, everolimus and cannabidiol...
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
NPRL3 (nitrogen permease regulator-like 3), NPRL2, and DEPDC5 (disheveled, Egl-10, and pleckstrin (DEP) domain-containing 5) form the GATOR1 complex (GTPase-activating protein (GAP) activity toward RAG complex 1) [1]. GATOR1 is in the mammalian target of rapamycin (mTOR) pathway and negatively regulates it (Fig. 1) [2]. Mutations in DEPDC5, NPRL2, and NPRL3 are associated with focal epilepsy and cortical malformations [2,3]. Treatment with a mTOR inhibitor reduces seizures in patients with tuberous sclerosis complex, a known mTORopathy [4].
Source: Seizure: European Journal of Epilepsy - Category: Neurology Authors: Tags: Clinical letter Source Type: research
Conclusion: Epileptogenic tubers presented much more diffusive connectivity with other tubers and perituberal cortexes than any other connectivity relationships across propagating tubers, and the peripheral region of epileptogenic tubers presented the greatest connectivity with propagating tubers and perituberal cortexes. CCEP can be an effective tool in epileptogenic tuber localization in patients with TSC.
Source: Frontiers in Neurology - Category: Neurology Source Type: research
Tuberous Sclerosis Complex (TSC) is a rare autosomal-dominant disorder caused by mutations in the TSC1 or TSC2 genes. Patients with TSC may suffer from a wide range of clinical manifestations; however, the burden of TSC and its impact on healthcare resources needed for its management remain unknown. Besides, the use of resources might vary across countries depending on the country-specific clinical practice. The aim of this paper is to describe the use of TSC-related resources and treatment patterns within the TOSCA registry. A total of 2,214 patients with TSC from 31 countries were enrolled and had a follow-up of up to 5 ...
Source: Frontiers in Neurology - Category: Neurology Source Type: research
ConclusionsDiffuse lesions may help to predict the poor neurological outcomes in patients with TSC.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
CONCLUSIONS: Diffuse lesions may help to predict the poor neurological outcomes in patients with TSC. PMID: 31645317 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Abstract Pathological high-frequency oscillations (HFOs), specifically fast ripples (FRs,>250 Hz), are pathognomonic of an active epileptogenic zone. However, the origin of FRs remains unknown. Here we explored the correlation between FRs recorded with intraoperative pre-resection electrocorticography (ECoG) and spontaneous synaptic activity recorded ex vivo from cortical tissue samples resected for the treatment of pharmacoresistant epilepsy. The cohort included 47 children (ages 0.22-9.99 yr) with focal cortical dysplasias (CD types I and II), tuberous sclerosis complex (TSC) and non-CD pathologies. Whole...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Abstract Tuberous sclerosis complex (TSC) is a genetic disease related to hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and manifested by neurological symptoms, such as epilepsy and sleep disorders. The pathophysiology of sleep dysfunction is poorly understood and is likely multifactorial, but may involve intrinsic biological regulators in the brain. Here, we characterized a mouse model of sleep disorders in TSC and investigated mechanisms of sleep dysfunction in this conditional knockout model involving inactivation of the Tsc1 gene in neurons and astrocytes (Tsc1GFAPCKO mice). Sleep studi...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Neuropediatrics DOI: 10.1055/s-0039-1695786A 6.5-year-old female patient with a TSC2 mutation had been given everolimus (EVE) for 3 years for pharmacoresistant focal epilepsy and for life-threatening, severe ventricular dysrhythmia. EVE had been started with daily dose of 0.15 mg/kg/day and was increased up to 0.6 mg/kg/day. Target blood trough levels of around 9 µg/L had been documented. Although EVE therapy revealed no effect on seizure activity, cardiac rhythm normalized completely. Thus, EVE was reduced to a dose of 0.3 mg/kg/day leading to stable blood trough levels of 4 to 5&t...
Source: Neuropediatrics - Category: Neurology Authors: Tags: Short Communication Source Type: research
Abstract BACKGROUND: The quality of life (QoL) of patients with Tuberous Sclerosis Complex (TSC) has not been studied before. We aimed to investigate the impact of the disease on QoL. We studied the QoL of 91 TSC patients who have attended the Bath TSC clinic, UK over 6 months. QoL was evaluated using the PedsQL for children, and SF-36 for adults. RESULTS: Impaired QoL is found in all patients with TSC regardless of the presence of epilepsy and learning disabilities (LD). Total mean self-reported score for children was 71 out of 100, compared to a UK norm of 84, p 
Source: European Journal of Paediatric Neurology - Category: Neurology Authors: Tags: Eur J Paediatr Neurol Source Type: research
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