Metabolic etiologies in West syndrome
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DOI: 10.1002/epi4.12102
Abstract: West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments. Approximately 64% of the… read more here.
Keywords: west syndrome; etiology; etiologies west; pathology ... See more keywords
Identification of De Novo DNMT3A Mutations That Cause West Syndrome by Using Whole-Exome Sequencing
Sign Up to like & getrecommendations! Published in 2017 at "Molecular Neurobiology"
DOI: 10.1007/s12035-017-0483-9
Abstract: Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this… read more here.
Keywords: dnmt3a mutations; exome sequencing; dnmt3a; west syndrome ... See more keywords
West Syndrome Caused By a Chloride/Proton Exchange-Uncoupling CLCN6 Mutation Related to Autophagic-Lysosomal Dysfunction
Sign Up to like & getrecommendations! Published in 2021 at "Molecular Neurobiology"
DOI: 10.1007/s12035-021-02291-3
Abstract: Vesicular chloride/proton exchangers of the CLC family are critically involved in the function of the endosomal-lysosomal pathway. Their dysfunction leads to severe disorders including intellectual disability and epilepsy for ClC-4, Dent’s disease for ClC-5, and… read more here.
Keywords: west syndrome; clc; dysfunction; proton ... See more keywords
Phenotypic characterization of COL4A1-related West syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106349
Abstract: Collagen type IV, alpha-1 (COL4A1) variants can cause cerebrovascular diseases, such as porencephaly and cerebral hemorrhage, in addition to other autosomal dominant hereditary diseases. Patients with COL4A1 variants can present with epilepsy, most commonly focal… read more here.
Keywords: col4a1; phenotypic characterization; west syndrome; col4a1 related ... See more keywords
Management of West syndrome during COVID-19 pandemic: A viewpoint from South Asian West Syndrome Research Group
Sign Up to like & getrecommendations! Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106453
Abstract: In the wake of the pandemic COVID-19 and nationwide lockdowns gripping many countries globally, the national healthcare systems are either overwhelmed or preparing to combat this pandemic. Despite all the containment measures in place, experts… read more here.
Keywords: covid pandemic; west syndrome; south asian; syndrome covid ... See more keywords
Definitions and Diagnostic Criteria for Infantile Spasms and West Syndrome - Historical Perspectives and Practical Considerations.
Sign Up to like & getrecommendations! Published in 2021 at "Seminars in pediatric neurology"
DOI: 10.1016/j.spen.2021.100893
Abstract: The term infantile spasms has been used inconsistently within the medical literature for decades. We are also without formal consensus on the diagnostic criteria for West syndrome. Author-specific definitions for these terms will determine the… read more here.
Keywords: west syndrome; infantile spasms; criteria infantile; historical perspectives ... See more keywords
Rapid whole-genome sequencing identifies a novel GABRA1 variant associated with West syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a001776
Abstract: A 9-mo-old infant was admitted with infantile spasms that improved on administration of topiramate and steroids. He also had developmental delay, esotropia, and hypsarrhythmia on interictal electroencephalogram (EEG), and normal brain magnetic resonance imaging (MRI).… read more here.
Keywords: whole genome; west syndrome; rapid whole; sequencing identifies ... See more keywords
Deterministic Learning-Based WEST Syndrome Analysis and Seizure Detection on ECG
Sign Up to like & getrecommendations! Published in 2022 at "IEEE Transactions on Circuits and Systems II: Express Briefs"
DOI: 10.1109/tcsii.2022.3188162
Abstract: WEST syndrome is an unknown etiology infant epilepsy, which is characterized by the flexion spastic seizure, intellectual motion development lag, electrode abnormalities, arrhythmia. In this brief, we present a novel electrocardiogram (ECG) based WEST syndrome… read more here.
Keywords: tex math; inline formula; seizure; west syndrome ... See more keywords
The underlying etiology of infantile spasms (West syndrome): Information from the International Collaborative Infantile Spasms Study (ICISS)
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DOI: 10.1111/epi.16305
Abstract: To determine the underlying etiologies in a contemporary cohort of infants with infantile spasms and to examine response to treatment. read more here.
Keywords: infantile spasms; etiology; west syndrome; underlying etiology ... See more keywords
Involvement of the Thalamus, Hippocampus, and Brainstem in Hypsarrhythmia of West Syndrome: Simultaneous Recordings of Electroencephalography and fMRI Study
Sign Up to like & getrecommendations! Published in 2022 at "American Journal of Neuroradiology"
DOI: 10.3174/ajnr.a7646
Abstract: BACKGROUND AND PURPOSE: West syndrome is a developmental and epileptic encephalopathy characterized by epileptic spasms, neurodevelopmental regression, and a specific EEG pattern called hypsarrhythmia. Our aim was to investigate the brain activities related to hypsarrhythmia… read more here.
Keywords: brainstem; hypsarrhythmia; west syndrome; blood oxygen ... See more keywords
Retrospective Echocardiographic Analysis of West Syndrome During Adrenocorticotropic Hormone Therapy
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2022.889752
Abstract: Background Ventricular hypertrophy is a well-known side effect of adrenocorticotropic hormone (ACTH) therapy in patients with West syndrome (WS), but there are only a few reports of echocardiographic evaluation of these patients’ diastolic function. Methods… read more here.
Keywords: adrenocorticotropic hormone; therapy; west syndrome; acth therapy ... See more keywords