A novel splice variant in EMC1 is associated with cerebellar atrophy, visual impairment, psychomotor retardation with epilepsy

ConclusionWe report, for the first time the role of aberrant EMC1RNA splicing as a potential cause of disease pathogenesis. The severe epilepsy observed in our study expands the disease‐associated phenotype and also emphasizes the need for comprehensive screening of intronic splice mutations. Targeted resequencing by next‐generation sequencing identified a novel homozygous splice variant in EMC1 gene. Further analysis using RNA sequencing revealed intron retention, which when translated is predicted to result in premature termination and thus an aberrant protein. For the first time we demonstrate the role of aberrant EMC1 RNA splicing as a potential cause of disease pathogenesis in early infantile onset epilepsy and severe psychomotor retardation.
Source: Molecular Genetics & Genomic Medicine - Category: Genetics & Stem Cells Authors: Tags: CLINICAL REPORT Source Type: research

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This study examined the impact of psychiatric comorbidity on QOL in patients admitted to two level 4 epilepsy monitoring units (EMUs).MethodsIn this prospective observational study, 200 patients admitted to two level 4 EMUs completed standardized surveys including the Quality of Life in Epilepsy (QOLIE-31-P), Generalized Anxiety Disorder 7-item (GAD-7), Patient Health Questionnaire (PHQ-9), and Beck Depression Inventory-II (BDI-II). Hierarchal multiple regression was performed to assess impact on QOL.ResultsOf the 200 participants, 113 had a diagnosis of epilepsy, 36 had a diagnosis of PNES, and 51 were excluded for nondia...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
This study is in line with previous literature highlighting the difficulty in retrospectively differentiating SE from psychogenic status based on clinical events description recorded in the medical chart.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Publication date: January 2020Source: Epilepsy &Behavior, Volume 102Author(s): Alexia Fasola, F.-Xavier Alario, Marion Tellier, Bernard Giusiano, Carlo Alberto Tassinari, Fabrice Bartolomei, Agnès TrébuchonAbstractPatients suffering from drug-resistant temporal lobe epilepsy show substantial language deficits (i.e., anomia) during their seizures and in the postictal period (postictal aphasia). Verbal impairments observed during the postictal period may be studied to help localizing the epileptogenic zone. These explorations have been essentially based on simple tasks focused on speech, thus disregarding t...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
ConclusionPatients and physicians' priorities in the management of epilepsy overlap only in part. Patients are satisfied with their caring physicians and less satisfied with communication and management of routine and emergency problems.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Publication date: January 2020Source: Epilepsy &Behavior, Volume 102Author(s): Clark Johnsen, Helen T. DingAbstractPsychogenic nonepileptic seizures (PNES) are challenging clinical occurrences consisting of any combination of altered movement, sensation, or awareness that resemble epileptic seizures (ES) but do not coincide with electrographic ictal discharges and are presumed to be neuropsychiatric–neurobehavioral in origin. Securing the PNES diagnosis is a crucial first step and is best confirmed by recording events on video-electroencephalogram (v-EEG) and finding an absence of ictal EEG changes and the presen...
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
This article is part of the Special Issue “NEWroscience 2018”.
Source: Epilepsy and Behavior - Category: Neurology Source Type: research
Authors: Famili A, Krishnan G, Davenport E, Germi J, Wagner B, Lega B, Montillo A Abstract Surgical resection of portions of the temporal lobe is the standard of care for patients with refractory mesial temporal lobe epilepsy. While this reduces seizures, it often results in an inability to form new memories, which leads to difficulties in social situations, learning, and suboptimal quality of life. Learning about the success or failure to form new memory in such patients is critical if we are to generate neuromodulation-based therapies. To this end, we tackle the many challenges in analyzing memory formation when ...
Source: Proceedings - International Symposium on Biomedical Imaging - Category: Radiology Tags: Proc IEEE Int Symp Biomed Imaging Source Type: research
The human genome has been proposed to contribute to interpersonal variability in the way we respond to nutritional intake. However, personalized diets solely based on gene-nutrient interactions have not lived up to their expectations to date. Advances in microbiome research have indicated that a science-based generation of a personalized diet based on a combination of clinical and microbial features may constitute a promising new approach enabling accurate prediction of dietary responses. In addition, scientific advances in our understanding of defined dietary components and their effects on human physiology led to the inc...
Source: Journal of Pediatric Gastroenterology and Nutrition - Category: Gastroenterology Tags: Invited Review Source Type: research
Publication date: Available online 20 November 2019Source: Neuroscience LettersAuthor(s): Sathiya Sekar, Changiz TaghibiglouAbstractGlyceraldehyde-3-phosphate dehydrogenase (GAPDH) has been well documented in glycolytic pathway. Independent of this, it has various other functions including stimulator of programmed cell death. Reports suggest that glutamate receptor AMPA type-2 subunit (GluA2) forms protein complex with GAPDH and internalized during excitotoxicity. Further, nuclear accumulation of GluA2 and GAPDH have been studied in neurological disorders like epilepsy and multiple sclerosis, and disruption of this complex...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Publication date: Available online 20 November 2019Source: Neuroscience ResearchAuthor(s): Takao Namiki, Ichiro Tsuda, Satoru Tadokoro, Shunsuke Kajikawa, Takeharu Kunieda, Riki Matsumoto, Masao Matsuhashi, Akio IkedaAbstractIn the present study, we attempted to characterize two characteristic features within the dynamic behavior of wideband electrocorticography data, which were recorded as the brain waves of epilepsy, comprising high-frequency oscillations (HFOs) and interictal epileptic slow (red slow). The results of power spectrum and nonlinear time series analysis indicate that, on one hand, HFOs at epileptic focus ar...
Source: Neuroscience Research - Category: Neuroscience Source Type: research
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