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   Articles with "infantile epileptic" as a keyword



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Hospital readmissions in children with new‐onset infantile epileptic spasms syndrome

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recommendations! Published in 2023 at "Epilepsia Open"

DOI: 10.1002/epi4.12711

Abstract: To describe inpatient resource use in the 2 years following infantile epileptic spasms syndrome (IESS) diagnosis, examine the association between clinical/demographic variables and incidence of readmission, and identify risk factors/reasons for frequent readmissions. read more here.

Keywords: infantile epileptic; readmissions children; spasms syndrome; hospital readmissions ... See more keywords
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Further delineation of PIGB-related early infantile epileptic encephalopathy.

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recommendations! Published in 2021 at "European journal of medical genetics"

DOI: 10.1016/j.ejmg.2021.104268

Abstract: Pathogenic variants in phosphatidylinositol glycan anchor biosynthesis class B (PIGB) gene have been first described as the cause of early infantile epileptic encephalopathy 80 (EIEE-80) in 2019. This disorder, an inherited glycosylphosphatidylinositol deficiency, is associated… read more here.

Keywords: epileptic encephalopathy; pigb related; delineation pigb; infantile epileptic ... See more keywords
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Efficacy and safety of vigabatrin in patients with tuberous sclerosis complex and infantile epileptic spasm syndrome: a systematic review.

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recommendations! Published in 2023 at "Expert review of neurotherapeutics"

DOI: 10.1080/14737175.2023.2216385

Abstract: INTRODUCTION Tuberous sclerosis complex (TSC) is a common genetic cause of epilepsy. Infantile epileptic spasm syndrome (IESS) is often the presenting neurologic feature, progressively evolving into refractory epilepsy. Vigabatrin (VGB) is often used in clinical… read more here.

Keywords: spasm; review; infantile epileptic; epileptic spasm ... See more keywords
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Early infantile epileptic encephalopathy related to NECAP1: Clinical delineation of the disease and review

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recommendations! Published in 2022 at "European Journal of Neurology"

DOI: 10.1111/ene.15424

Abstract: Epileptic encephalopathy (EE) refers to a heterogeneous group of epilepsy syndromes characterized by seizures as well as encephalopathies, leading to cognitive and behavioral disturbances. These conditions vary in their age at onset, their severity, and… read more here.

Keywords: early infantile; infantile epileptic; encephalopathy related; epileptic encephalopathy ... See more keywords
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Chinese cases of early infantile epileptic encephalopathy: a novel mutation in the PCDH19 gene was proved in a mosaic male- case report

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recommendations! Published in 2018 at "BMC Medical Genetics"

DOI: 10.1186/s12881-018-0621-x

Abstract: BackgroundThe link between the protocadherin-19 (PCDH19) gene and epilepsy suggests that an unusual form of X-linked inheritance affects females but is transmitted through asymptomatic males. Individuals with epilepsy associated with mutations in the PCDH19 gene… read more here.

Keywords: infantile epileptic; pcdh19 gene; early infantile; gene ... See more keywords
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[Infantile epileptic encephalopathy: a good genetic study should be a priority].

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recommendations! Published in 2018 at "Revista de neurologia"

DOI: 10.33588/rn.6609.2018071

Abstract: Encefalopatia epileptica del lactante: lo prioritario es un buen estudio genetico. read more here.

Keywords: epileptic encephalopathy; study priority; infantile epileptic; genetic study ... See more keywords
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Molecular Dynamics of CYFIP2 Protein and Its R87C Variant Related to Early Infantile Epileptic Encephalopathy

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23158708

Abstract: The CYFIP2 protein (cytoplasmic FMR1-interacting protein 2) is part of the WAVE regulatory complex (WRC). CYFIP2 was recently correlated to neurological disorders by the association of the R87C variant with early infantile epileptic encephalopathy (EIEE)… read more here.

Keywords: r87c; early infantile; r87c variant; infantile epileptic ... See more keywords