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   Articles with "related epilepsy" as a keyword



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Phenotypic variability of GABRA1‐related epilepsy in monozygotic twins

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recommendations! Published in 2019 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.50895

Abstract: Variants in GABRA1 have been associated with different epilepsies ranging from mild generalized forms to epileptic encephalopathies. Despite the broad clinical spectrum, phenotypes were found to be largely concordant within families. Contrary to this observation,… read more here.

Keywords: phenotypic variability; gabra1 related; related epilepsy; variability gabra1 ... See more keywords
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Anakinra usage in febrile infection related epilepsy syndrome: an international cohort

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recommendations! Published in 2020 at "Annals of Clinical and Translational Neurology"

DOI: 10.1002/acn3.51229

Abstract: Febrile‐infection related epilepsy syndrome (FIRES) is a devastating neurological condition characterized by a febrile illness preceding new onset refractory status epilepticus (NORSE). Increasing evidence suggests innate immune dysfunction as a potential pathological mechanism. We report… read more here.

Keywords: febrile infection; infection; related epilepsy; infection related ... See more keywords
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Functional deficiency in endogenous interleukin‐1 receptor antagonist in patients with febrile infection‐related epilepsy syndrome

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recommendations! Published in 2019 at "Annals of Neurology"

DOI: 10.1002/ana.25439

Abstract: We recently reported successful treatment of a child with febrile infection‐related epilepsy syndrome (FIRES), a subtype of new onset refractory status epilepticus, with the recombinant interleukin‐1 (IL1) receptor antagonist (IL1RA) anakinra. On this basis, we… read more here.

Keywords: receptor antagonist; febrile infection; infection related; related epilepsy ... See more keywords
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Proposal to optimize evaluation and treatment of Febrile infection‐related epilepsy syndrome (FIRES): A Report from FIRES workshop

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recommendations! Published in 2021 at "Epilepsia Open"

DOI: 10.1002/epi4.12447

Abstract: Febrile infection‐related epilepsy syndrome (FIRES) is a rare catastrophic epileptic encephalopathy that presents suddenly in otherwise normal children and young adults causing significant neurological disability, chronic epilepsy, and high rates of mortality. To suggest a… read more here.

Keywords: febrile infection; infection related; related epilepsy; syndrome fires ... See more keywords
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Modifier genes in SCN1A‐related epilepsy syndromes

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recommendations! Published in 2020 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.1103

Abstract: SCN1A is one of the most important epilepsy‐related genes, with pathogenic variants leading to a range of phenotypes with varying disease severity. Different modifying factors have been hypothesized to influence SCN1A‐related phenotypes. We investigate the… read more here.

Keywords: epilepsy; epilepsy syndromes; related epilepsy; modifier genes ... See more keywords
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Febrile infection-related epilepsy syndrome (FIRES) in an adult patient: an early neuroradiological finding

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recommendations! Published in 2019 at "Neurological Sciences"

DOI: 10.1007/s10072-019-03925-0

Abstract: Dear Editor, New onset refractory status epilepticus (NORSE) is a clinical presentation in a patient without active epilepsy or other pre-existing relevant neurological disorders, with new onset of refractory status epilepticus without a clear acute… read more here.

Keywords: febrile infection; etiology; infection related; infection ... See more keywords
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Tumor-related epilepsy: epidemiology, pathogenesis and management

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recommendations! Published in 2018 at "Journal of Neuro-Oncology"

DOI: 10.1007/s11060-018-2862-0

Abstract: IntroductionSeizure is a common comorbidity in patients with brain tumor. It may be the presenting symptom or develop after the tumor diagnosis. The underlying pathophysiology of brain tumor-related epilepsy remains poorly understood.MethodsA comprehensive literature review… read more here.

Keywords: related epilepsy; tumor related; pathogenesis; epidemiology ... See more keywords
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ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response

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recommendations! Published in 2020 at "Journal of Clinical Neuroscience"

DOI: 10.1016/j.jocn.2020.01.041

Abstract: ATP1A3 related disease is a clinically heterogeneous condition currently classified as alternating hemiplegia of childhood, rapid-onset dystonia-parkinsonism and cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss. Recently, it has become apparent that… read more here.

Keywords: response; treatment; related epilepsy; atp1a3 related ... See more keywords
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A mouse model of DEPDC5-related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

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recommendations! Published in 2018 at "Neurobiology of Disease"

DOI: 10.1016/j.nbd.2017.12.010

Abstract: DEPDC5 is a newly identified epilepsy-related gene implicated in focal epilepsy, brain malformations, and Sudden Unexplained Death in Epilepsy (SUDEP). In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway,… read more here.

Keywords: depdc5 related; related epilepsy; model; seizure ... See more keywords
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Perampanel in patients with brain tumor-related epilepsy in real-life clinical practice: a retrospective analysis

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recommendations! Published in 2019 at "International Journal of Neuroscience"

DOI: 10.1080/00207454.2018.1555160

Abstract: Abstract Introduction: Epilepsy occurs in 35–70% of patients with gliomas; glutamate plays a central role via AMPA-receptor activation, which is involved both in seizure activity and tumor growth. We conducted a retrospective study on brain… read more here.

Keywords: epilepsy; related epilepsy; tumor related; brain tumor ... See more keywords
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C-70 Neuropsychological Profiles of Patients With SCN8A-Related Epilepsy

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recommendations! Published in 2019 at "Archives of Clinical Neuropsychology"

DOI: 10.1093/arclin/acz034.232

Abstract: Two cases of SCN8A-related epilepsy (a sodium-channelopathy) are presented. SCN8A-related epilepsy with encephalopathy (SCN8A-REE), the most common form, is typically characterized by refractory seizures, developmental delays, and intellectual disability (ID) but recently discovered variants have… read more here.

Keywords: related epilepsy; scn8a related; case; motor ... See more keywords