EEF1A2 mutations in epileptic encephalopathy/intellectual disability: Understanding the potential mechanism of phenotypic variation

This study highlights the potential genotype–phenotype relationship in EEF1A2 and facilitates the evaluation of the pathogenicity of EEF1A2 mutations in clinical practice.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research

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Authors: Uysal SP, Sahin M Abstract Tuberous sclerosis complex (TSC) is an autosomal dominant, multisystem disorder that is characterized by cellular and tissue dysplasia in With the advent of genetic and molecular techniques, mutations in TSC1 or TSC2 genes were discovered to be responsible for mTOR overactivation, which is the underlying mechanism of pathogenesis. TSC is a highly heterogenous clinical entity with variable presentations and severity of disease. The brain, heart, skin, eyes, kidneys, and lungs are commonly involved in this syndrome, with the neurologic symptoms comprising a significant source of mo...
Source: Turkish Journal of Medical Sciences - Category: General Medicine Tags: Turk J Med Sci Source Type: research
Discussion Memory is an important part of what distinguishes higher order species from others. Memory also is part of one’s self-identity. Difficulties in short-term memory can make common, everyday tasks difficult for the person experiencing the problem particularly if it recently occurred and the person’s long-term memory is intact. Difficulties with long-term memory can also have problems when language, events or even one’s own identity are affected. For some people the memory loss is temporary but for others, memory impairments are permanent and must be accepted and accommodated as part of the overall...
Source: - Category: Pediatrics Authors: Tags: Uncategorized Source Type: news
CONCLUSIONS: Teachers of the study were concerned about not knowing what to do in an emergency event in a schoolchild with chronic illness. Although some had received information about the medication to be administered, they were not sure if they would be able to do so. The training and self-confidence of teachers should be improved in order to cope with possible critical situations in schoolchildren with chronic diseases. PMID: 32205056 [PubMed - as supplied by publisher]
Source: Anales de Pediatria - Category: Pediatrics Authors: Tags: An Pediatr (Barc) Source Type: research
CONCLUSIONS: Children and adolescents with surgically treated epilepsy reach a good seizure outcome, stabilize in intellectual and adaptive functions, and have an increase in QOL, from the caregiver's perspective. Nevertheless, their burden remains unchanged. Seizure outcome is the main factor for improvement in the QOL. The upgrading of structured questionnaires and QOL instruments specific to pediatric epilepsy can be helpful to assess patient- and caregiver-reported surgical outcomes, allowing for better planning of therapeutic approaches. PMID: 32199346 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
by Pierre Coste de Bagneaux, Leonie von Elsner, Tatjana Bierhals, Marta Campiglio, Jessika Johannsen, Gerald J. Obermair, Maja Hempel, Bernhard E. Flucher, Kerstin Kutsche P/Q-type channels are the principal presynaptic calcium channels in brain functioning in neurotransmitter release. They are composed of the pore-forming CaV2.1 α1 subunit and the auxiliary α2δ-2 and β4 subunits. β4 is encoded byCACNB4, and its multiple splice variants serve isoform-specific functions as channel subunits and transcriptional regulators in the nucleus. In two siblings with intellectual disability, psychomotor re...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research
Abstract Children with malformations of cortical development (MCD) are at risk for epilepsy, developmental delays, behavioral disorders, and intellectual disabilities. While for a subset of these children epilepsy surgery may result in seizure freedom, there are limited options for treating or curing the other conditions, and epilepsy surgery is not an option in all cases. Understanding the genetic and neurobiological mechanisms underlying MCD is a necessary step in elucidating novel therapeutic targets. The tish (telencephalic internal structural heterotopia) rat is a unique model of MCD with spontaneous seizures...
Source: Neurobiology of Disease - Category: Neurology Authors: Tags: Neurobiol Dis Source Type: research
Conclusions: This manuscript is the first to demonstrate that task-based fMRI can be used successfully to lateralize language in adult patients with cognitive and intellectual disabilities, and is the first to propose a specific paradigm for this purpose. PMID: 32167409 [PubMed - as supplied by publisher]
Source: The Clinical Neuropsychologist - Category: Psychiatry & Psychology Authors: Tags: Clin Neuropsychol Source Type: research
CONCLUSIONS: This 'real-life' evaluation suggests that reductions in seizure frequency can be achieved with BRV in patients with highly refractory epilepsy. Brivaracetam may be a useful treatment option in patients who have previously failed to respond to or tolerate LEV, those with LD, or (off-label) those with generalized epilepsies. PMID: 32179501 [PubMed - as supplied by publisher]
Source: Epilepsy and Behaviour - Category: Neurology Authors: Tags: Epilepsy Behav Source Type: research
Being diagnosed with any number of neurological diseases can be scary, not only due to the progressive nature of many of these conditions, but also because they often cannot be detected until their later stages of progression. Following the failu...
Source: Medgadget - Category: Medical Devices Authors: Tags: Exclusive Neurology Ophthalmology Source Type: blogs
We describe a homozygous, known variant c.1160_1161delCA (p.Thr387fs) that was found in the largest ever group of patients coming from four families. The patients exhibited early hypotonia progressing to spastic paraplegia, microcephaly, epilepsy, and central nervous system (CNS) defects and global developmental delay that are consistent with the nature of SPG47. Our findings expand phenotypic spectrum of SPG47 to include polymorphic seizures, mild/moderate intellectual disability, and intracerebral cysts as well as point to founder mutation in AP4 deficiency disorders in apparently non-consanguineous Polish families witho...
Source: J Appl Genet - Category: Genetics & Stem Cells Authors: Tags: J Appl Genet Source Type: research
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