De Novo and Inherited SETD1A Variants in Early-onset Epilepsy
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DOI: 10.1007/s12264-019-00400-w
Abstract: Early-onset epilepsy is a neurological abnormality in childhood, and it is especially common in the first 2 years after birth. Seizures in early life mostly result from structural or metabolic disorders in the brain, and the… read more here.
Keywords: mutations setd1a; early onset; novo inherited; inherited setd1a ... See more keywords
Alice in wonderland syndrome in an elderly patient with focal onset epilepsy
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2020.04.010
Abstract: Alice in wonderland syndrome (AIWS) is a rare perceptual disorder characterized by subjective distortions of visual and somatosensory perception. Symptoms of AIWS are attributable to functional and structural changes of the visual and somatosensory perceptual… read more here.
Keywords: epilepsy; wonderland syndrome; onset epilepsy; alice wonderland ... See more keywords
Alzheimer's disease and late-onset epilepsy of unknown origin: two faces of beta amyloid pathology
Sign Up to like & getrecommendations! Published in 2019 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2018.09.006
Abstract: Although amyloid pathology plays a role in epilepsy, little is known about the relationship between beta amyloid and progression to Alzheimer's disease (AD) among patients with late-onset epilepsy of unknown origin (LOEU). This multicenter, observational,… read more here.
Keywords: late onset; alzheimer disease; onset epilepsy; beta amyloid ... See more keywords
De novo mutations of TUBB2A cause infantile-onset epilepsy and developmental delay
Sign Up to like & getrecommendations! Published in 2020 at "Journal of Human Genetics"
DOI: 10.1038/s10038-020-0739-5
Abstract: We analyzed our two new cases of infantile-onset epilepsy with developmental delay with de novo variant in TUBB2A and review the related literatures. Our two probands were both girls with infantile-onset epilepsy and global developmental… read more here.
Keywords: developmental delay; onset epilepsy; case; delay ... See more keywords
Antiquitin Deficiency with Adolescent Onset Epilepsy: Molecular Diagnosis in a Mother of Affected Offsprings.
Sign Up to like & getrecommendations! Published in 2018 at "Neuropediatrics"
DOI: 10.1055/s-0037-1621721
Abstract: Antiquitin deficiency is the most prevalent form of pyridoxine-dependent epilepsy. While most patients present with neonatal onset of therapy-resistant seizures, a few cases with late-onset during infancy have been described. Here, we describe the juvenile… read more here.
Keywords: pyridoxine; diagnosis; onset epilepsy; antiquitin deficiency ... See more keywords
New‐onset epilepsy in the elderly
Sign Up to like & getrecommendations! Published in 2018 at "British Journal of Clinical Pharmacology"
DOI: 10.1111/bcp.13653
Abstract: People who are 60 years old and older have the highest incidence of developing new‐onset epilepsy. The increase of the ageing population has resulted in a greater number of patients with new‐onset epilepsy or at… read more here.
Keywords: treatment; onset epilepsy; epilepsy elderly; new onset ... See more keywords
Social outcomes of young adults with childhood‐onset epilepsy: A case‐sibling‐control study
Sign Up to like & getrecommendations! Published in 2017 at "Epilepsia"
DOI: 10.1111/epi.13726
Abstract: We aimed to compare long‐term social outcomes in young adults with childhood‐onset epilepsy (cases) with neurologically normal sibling controls. read more here.
Keywords: social outcomes; outcomes young; onset epilepsy; adults childhood ... See more keywords
Impaired social attention detected through eye movements in children with early‐onset epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Epilepsia"
DOI: 10.1111/epi.16962
Abstract: Children with early‐onset epilepsy (CWEOE; epilepsy onset before 5 years) exhibit impaired social functioning, but social attention has not yet been examined. In this study we sought to explore visual attention via eye tracking as… read more here.
Keywords: early onset; onset epilepsy; social attention; attention ... See more keywords
Adult onset epilepsy is defined by phenotypic clusters with unique comorbidities and risks of death
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DOI: 10.1111/epi.16996
Abstract: This study was undertaken to identify clusters of adult onset epilepsy with distinct comorbidities and risks of early and late death. read more here.
Keywords: death; adult onset; onset epilepsy; comorbidities risks ... See more keywords
Outcomes of the second withdrawal of anti‐seizure medication in patients with pediatric‐onset epilepsy
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DOI: 10.1111/epi.17594
Abstract: Withdrawal of anti‐seizure medication (ASM) is challenging, especially in patients with recurrent seizures. Only limited evidence exists regarding the success rate and recurrence risk factors after withdrawal of ASM for a second time in patients… read more here.
Keywords: seizure; withdrawal; onset epilepsy; pediatric onset ... See more keywords
Clinical and molecular characterization of KCNT1-related severe early-onset epilepsy
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000004762
Abstract: Objective To characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy. Methods We identified a cohort of 31 patients with epilepsy of infancy with migrating focal seizures… read more here.
Keywords: onset; early onset; onset epilepsy; function ... See more keywords