Results 191 to 200 of about 30,717 (277)

Exploring the role of apolipoprotein ε4 in progressive myoclonic epilepsy type 1

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Progressive myoclonic epilepsy type 1 (EPM1) is a neurodegenerative disease caused by biallelic variants in the cystatin B (CSTB) gene. Despite a progressive course, phenotype severity varies among patients, even within families. We studied the potential role of APOE ε4 in modifying phenotypic diversity in EPM1, given its established
Janina Gunnar   +10 more
wiley   +1 more source

Baseline characteristics and feasibility of clinical outcome measures in CDKL5 deficiency disorder: The CANDID observational study

open access: yesEpilepsia, EarlyView.
Abstract Objective CDKL5 deficiency disorder (CDD) is a rare X‐linked developmental and epileptic encephalopathy caused by loss‐of‐function variants in the CDKL5 gene. Preclinical experiments using enzyme replacement or gene therapies show promise and could be transformative therapies.
Xavier Liogier d'Ardhuy   +8 more
wiley   +1 more source

Depressive symptoms as independent correlates of epilepsy‐related cognitive burden

open access: yesEpilepsia, EarlyView.
Abstract Objective This study was undertaken to assess the relationship between the severity of depression and anxiety symptoms and epilepsy‐related variables and cognitive burden in people with epilepsy (PwE), as assessed using EpiTrack. Methods We prospectively enrolled a cohort of PwE who underwent EpiTrack and evaluation by Generalized Anxiety ...
Biagio Maria Sancetta   +10 more
wiley   +1 more source

Cognition in adults with bottom‐of‐sulcus dysplasia and the consequences of focal resection

open access: yesEpilepsia, EarlyView.
Abstract Objective To determine whether there are cognitive consequences of bottom‐of‐sulcus dysplasia (BOSD) when assessed as adults and whether focal resection of these lesions leads to change in cognition. Methods We studied 42 adults, of whom 39 underwent focal resection targeting the lesion.
Carmen J. Zheng   +4 more
wiley   +1 more source

Assessing the impact of disabilities on healthcare access among Sudanese refugees in Egypt during the 2023 crisis: a discriminant analysis approach. [PDF]

open access: yesFront Med (Lausanne)
Semary HE   +6 more
europepmc   +1 more source

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