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Published in 2019 at "Annals of Clinical and Translational Neurology"
DOI: 10.1002/acn3.50858
Abstract: Responsive neurostimulation (RNS) has emerged as an adjunctive treatment modality for patients with intractable focal epilepsy who are not surgical candidates or have more than one ictal onset focus. We report a 34‐year‐old patient with…
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Keywords:
neurostimulation targeting;
anterior thalamic;
responsive neurostimulation;
generalized epilepsy ... See more keywords
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Published in 2022 at "Epilepsia Open"
DOI: 10.1002/epi4.12671
Abstract: Rare case reports describe genetic generalized epilepsy (GGE) starting de novo in people ≥50 years of age (older adults and the elderly). We aimed to provide comprehensive detail of electro‐clinical findings of this extremely late‐onset GGE…
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Keywords:
adults elderly;
older adults;
epilepsy;
generalized epilepsy ... See more keywords
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Published in 2017 at "Human Brain Mapping"
DOI: 10.1002/hbm.23430
Abstract: Idiopathic generalized epilepsy (IGE) has been linked with disrupted intra‐network connectivity of multiple resting‐state networks (RSNs); however, whether impairment is present in inter‐network interactions between RSNs, remains largely unclear. Here, 50 patients with IGE characterized…
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Keywords:
state;
idiopathic generalized;
network;
connectivity ... See more keywords
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Published in 2020 at "Neurological Sciences"
DOI: 10.1007/s10072-020-04284-x
Abstract: Generalized epilepsy with febrile seizures plus (GEFS+) is a complex familial epilepsy syndrome. It is mainly caused by mutations in SCN1A gene, encoding type 1 voltage-gated sodium channel α-subunit (NaV1.1), and GABRA1 gene, encoding the…
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Keywords:
chinese family;
gene;
generalized epilepsy;
mutation ... See more keywords
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Published in 2018 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2018.01.014
Abstract: Bainbridge-Ropers syndrome is a genetic syndrome caused by heterozygous loss-of-function pathogenic variants in ASXL3, which encodes a protein involved in transcriptional regulation. Affected individuals have multiple abnormalities including developmental impairment, hypotonia and characteristic facial features.…
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Keywords:
onset generalized;
bainbridge ropers;
generalized epilepsy;
ropers syndrome ... See more keywords
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Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106374
Abstract: OBJECTIVE Although the genetic origin of Idiopathic/Genetic Generalized Epilepsy (IGE) is hardly disputed, only a minority of patients show Mendelian inheritance. We here questioned if clinical characteristics like long-term outcome and treatment response differ between…
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Keywords:
treatment response;
ige;
treatment;
generalized epilepsy ... See more keywords
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Published in 2017 at "Brain"
DOI: 10.1093/brain/awx129
Abstract: Gene identification in epilepsy has mainly been limited to large families segregating genes of major effect and de novo mutations in epileptic encephalopathies. Many families that present with common non-acquired focal epilepsies and genetic generalized…
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Keywords:
epilepsy;
common epilepsies;
multiplex families;
familial focal ... See more keywords
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Published in 2020 at "Neurosurgery"
DOI: 10.1093/neuros/nyaa001
Abstract: BACKGROUND AND IMPORTANCE At least 25% of patients with idiopathic generalized epilepsy do not obtain adequate seizure control with medication. This report describes the first use of responsive neurostimulation (RNS), bilaterally targeting the centromedian/ventrolateral (CM/VL)…
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Keywords:
epilepsy;
idiopathic generalized;
responsive neurostimulation;
seizure control ... See more keywords
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Published in 2017 at "Journal of Clinical Neurophysiology"
DOI: 10.1097/wnp.0000000000000358
Abstract: Purpose: To evaluate EEG differences among syndromes in genetic generalized epilepsy based on quantified data. Methods: Twenty-four-hour ambulatory EEGs were recorded in consecutive patients diagnosed with genetic generalized epilepsy. All epileptiform EEG abnormalities were quantified…
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Keywords:
epilepsy;
among syndromes;
density;
generalized epilepsy ... See more keywords
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Published in 2022 at "Epilepsia"
DOI: 10.1111/epi.17258
Abstract: Genetic generalized epilepsy (GGE) is characterized by aberrant neuronal dynamics and subtle structural alterations. We evaluated whether a combination of magnetic and electrical neuronal signals and cortical thickness would provide complementary information about network pathology…
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Keywords:
healthy siblings;
electrophysiological morphological;
combined electrophysiological;
generalized epilepsy ... See more keywords
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Published in 2023 at "Epilepsia"
DOI: 10.1111/epi.17524
Abstract: There are three neurostimulation devices available to treat generalized epilepsy: vagus nerve stimulation (VNS), deep brain stimulation (DBS), and responsive neurostimulation (RNS). However, the choice between them is unclear due to lack of head‐to‐head comparisons.…
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Keywords:
neurostimulation generalized;
generalized epilepsy;
meta analysis;
neurostimulation ... See more keywords