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Published in 2022 at "Brain and Behavior"
DOI: 10.1002/brb3.2763
Abstract: Epileptic condition can be detected in EEG data seconds before it occurs, according to evidence. To overcome the related long‐term mortality and morbidity from epileptic seizures, it is critical to make an initial diagnosis, uncover…
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Keywords:
onset epileptic;
deep convolutional;
epileptic seizures;
convolutional neural ... See more keywords
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Published in 2023 at "Epilepsia Open"
DOI: 10.1002/epi4.12698
Abstract: We aimed to analyze the efficiency of corpus callosotomy (CC) and subsequent disconnection surgeries in patients with late‐onset epileptic spasms (LOES) by comparing post‐encephalitis/encephalopathy (PE) and non‐encephalitis/encephalopathy (NE). We hypothesized these surgeries can control potential…
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Keywords:
onset epileptic;
encephalitis encephalopathy;
callosotomy subsequent;
corpus callosotomy ... See more keywords
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Published in 2018 at "Brain and Development"
DOI: 10.1016/j.braindev.2018.02.009
Abstract: We report a case of 14-month-old male monozygotic twins showing early-onset intractable epilepsy, delayed psychomotor development, hypotonia, opisthotonus, and dysmorphism. They presented with refractory partial and secondary generalized tonic-clonic or myoclonic seizures since age of…
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Keywords:
early onset;
piga;
onset epileptic;
novel germline ... See more keywords
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Published in 2020 at "European journal of medical genetics"
DOI: 10.1016/j.ejmg.2020.103970
Abstract: Pathogenic variants in AIMP1 gene are rare causes of neurologic disorders. Homozygous frameshift and nonsense variants in AIMP1 have been described in severe neurodegenerative disease. This is the third report of a homozygous nonsense variant…
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Keywords:
epileptic encephalopathy;
early onset;
variant aimp1;
burst suppression ... See more keywords
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Published in 2020 at "Epilepsy Research"
DOI: 10.1016/j.eplepsyres.2020.106323
Abstract: BACKGROUND Early-onset epileptic encephalopathies with burst suppression (EOEE-BS) are a group of neonatal epileptic syndromes characterized by intractable epilepsy and severe psychomotor delay with structural and metabolic factors accounting for major etiologies. However, recent advances…
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Keywords:
early onset;
etiology;
burst suppression;
genetic diagnosis ... See more keywords
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Published in 2021 at "Developmental Neuroscience"
DOI: 10.1159/000519318
Abstract: Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor development. Genetic variations are among the identifiable primary causes of these syndromes. However, some patients have been reported to be affected by EOEE without any other…
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Keywords:
epileptic encephalopathies;
nonsyndromic early;
onset epileptic;
kctd7 mutations ... See more keywords
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Published in 2020 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000494
Abstract: Fibroblast growth factor 12 (FGF12) spans 5 exons and encodes for a cytosolic voltage-gated sodium channel binding protein that modulates neuronal excitability.1,2 A recurrent activating FGF12 mutation (NM_021032, [GRCh37] 192053223C>T, p.R114H in A-isoform, p.R52H in…
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Keywords:
onset epileptic;
tandem duplication;
epileptic encephalopathy;
fgf12 exon ... See more keywords
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Published in 2022 at "Neurology India"
DOI: 10.4103/0028-3886.349674
Abstract: Influenza A viruses, known etiological agents of seasonal outbreaks, epidemics, and pandemics, are RNA viruses of the Orthomyxoviridae family. They can manifest with a wide range of neurological complications. Influenza related encephalitis is rarely reported…
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Keywords:
onset epileptic;
temporal lobe;
new onset;
lobe lesion ... See more keywords