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   Articles with "nodular heterotopia" as a keyword



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Genetic analysis of periventricular nodular heterotopia 7 caused by a novel NEDD4L missense mutation: Case and literature summary.

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recommendations! Published in 2023 at "Molecular genetics & genomic medicine"

DOI: 10.1002/mgg3.2169

Abstract: BACKGROUND Neurodevelopmental disorders associated with periventricular nodular heterotopia (PVNH) are characterized by phenotypic and genetic heterogeneity. NEDD4L mutation can lead to PVNH7. However, at present, only eight NEDD4L pathogenic variants have been identified across 15… read more here.

Keywords: nodular heterotopia; missense mutation; mutant protein; mutation ... See more keywords
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Familial NEDD4L variant in periventricular nodular heterotopia and in a fetus with hypokinesia and flexion contractures

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recommendations! Published in 2018 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.490

Abstract: Mutations in the HECT domain of NEDD4L have recently been identified in a cohort of eight patients with a syndromic form of bilateral periventricular nodular heterotopia (PVNH) in association with neurodevelopmental delay, cleft palate, and… read more here.

Keywords: nedd4l variant; periventricular nodular; familial nedd4l; nodular heterotopia ... See more keywords
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Treatment of Epilepsy Associated with Periventricular Nodular Heterotopia

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recommendations! Published in 2020 at "Current Neurology and Neuroscience Reports"

DOI: 10.1007/s11910-020-01082-y

Abstract: Epilepsy associated with periventricular nodular heterotopia (PNH), a developmental malformation, is frequently drug-resistant and requires focal therapeutic intervention. Invasive EEG study is usually necessary to delineate the epileptogenic zone, but constructing an accurate hypothesis to… read more here.

Keywords: associated periventricular; epilepsy associated; periventricular nodular; nodular heterotopia ... See more keywords
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Resting-state functional connectivity alterations in periventricular nodular heterotopia related epilepsy

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recommendations! Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-55002-3

Abstract: Periventricular nodular heterotopia (PNH) is a neural migration disorder which often presents clinically with seizures. However, the underlying functional neural basis of PNH is still unclear. We aimed to explore the underlying pathological mechanism of… read more here.

Keywords: connectivity; periventricular nodular; nodular heterotopia; resting state ... See more keywords
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Periventricular nodular heterotopia associated with a “transmantle band sign” in patients with epilepsy

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recommendations! Published in 2023 at "Epilepsia"

DOI: 10.1111/epi.17604

Abstract: Previous studies using advanced magnetic resonance imaging (MRI) techniques have documented abnormal transmantle bands connecting ectopic nodules to overlying cortex in patients with periventricular nodular heterotopia (PNH). We describe a similar finding using conventional MRI… read more here.

Keywords: associated transmantle; nodular heterotopia; heterotopia associated; transmantle band ... See more keywords
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Whole-brain multimodal MRI phenotyping of periventricular nodular heterotopia

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recommendations! Published in 2020 at "Neurology"

DOI: 10.1212/wnl.0000000000010648

Abstract: Objective To test the hypothesis that in periventricular nodular heterotopia (PVNH) structure and function of cortical areas overlying the heterotopic gray matter are preferentially affected. Methods We studied a group of 40 patients with PVNH… read more here.

Keywords: nodular heterotopia; cortex; mri; periventricular nodular ... See more keywords
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De novo and inherited private variants in MAP1B in periventricular nodular heterotopia

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recommendations! Published in 2018 at "PLoS Genetics"

DOI: 10.1371/journal.pgen.1007281

Abstract: Periventricular nodular heterotopia (PVNH) is a malformation of cortical development commonly associated with epilepsy. We exome sequenced 202 individuals with sporadic PVNH to identify novel genetic risk loci. We first performed a trio-based analysis and… read more here.

Keywords: variants map1b; novo inherited; periventricular nodular; nodular heterotopia ... See more keywords
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Computational analysis of missense filamin-A variants, including the novel p.Arg484Gln variant of two brothers with periventricular nodular heterotopia

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recommendations! Published in 2022 at "PLoS ONE"

DOI: 10.1371/journal.pone.0265400

Abstract: Background Periventricular nodular heterotopia (PNH) is a cell migration disorder associated with mutations in Filamin-A (FLNA) gene on chromosome X. Majority of the individuals with PNH-associated FLNA mutations are female whereas liveborn males with FLNA… read more here.

Keywords: arg484gln variant; nodular heterotopia; novel arg484gln; variant ... See more keywords
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Recurrent NEDD4L Variant in Periventricular Nodular Heterotopia, Polymicrogyria and Syndactyly

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recommendations! Published in 2020 at "Frontiers in Genetics"

DOI: 10.3389/fgene.2020.00026

Abstract: NEDD4L encodes an ubiquitin ligase which is expressed in the cortex and ventricular zone of the fetal brain. Missense variants in NEDD4L have been reported in nine patients with periventricular nodular heterotopia (PNH), polymicrogyria, cleft… read more here.

Keywords: nedd4l variant; polymicrogyria; periventricular nodular; nodular heterotopia ... See more keywords
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Human periventricular nodular heterotopia shows several interictal epileptic patterns and hyperexcitability of neuronal firing

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recommendations! Published in 2022 at "Frontiers in Neurology"

DOI: 10.3389/fneur.2022.1022768

Abstract: Periventricular nodular heterotopia (PNH) is a malformation of cortical development that frequently causes drug-resistant epilepsy. The epileptogenicity of ectopic neurons in PNH as well as their role in generating interictal and ictal activity is still… read more here.

Keywords: neuronal firing; periventricular nodular; nodular heterotopia; human periventricular ... See more keywords

A Rare Cause of Refractory Epilepsy: Posterior Periventricular Nodular Heterotopia

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recommendations! Published in 2018 at "Journal of Pediatric Neurosciences"

DOI: 10.4103/jpn.jpn_178_17

Abstract: A 15-year-old male patient presented to our outpatient clinic with drug-resistant seizures. Magnetic resonance imaging of the brain showed bilateral posterior nodular heterotopia and left cerebellar dysgenesis. The patient was diagnosed with cortical developmental malformation… read more here.

Keywords: refractory epilepsy; periventricular nodular; heterotopia; nodular heterotopia ... See more keywords