Results 121 to 130 of about 72,857 (290)
Electron, EarlyView.Physics‐driven advances in optical nanobiosensors for rapid, miniaturized, and point‐of‐care diagnostics for next‐generation decentralized and personalized healthcare based on sensor intelligence. ABSTRACT Public health emergencies and the escalating burden of chronic diseases necessitate a paradigm shift from centralized laboratory testing to rapid ...
Vishal Chaudhary +5 more
wiley +1 more source
Sensorimotor Integration Task/CNV.
, 2015 Grand average Go/No-Go waveforms at Fz, Cz and Pz across subjects; S1 and S2 are the warning and stimulus onset times respectively. Scalp topography maps represent mean amplitude of the CNV at early and late periods by group.
Lauren M. Turner (799992) +5 more
core +1 more source
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective Mild malformation of cortical development with oligodendroglial hyperplasia in epilepsy (MOGHE) is an underrecognized pediatric cortical lesion associated with somatic X‐linked SLC35A2 variants in approximately 50% of individuals. The genetic etiology in individuals without detectable SLC35A2 mutations remains undefined, which limits
Erica Cecchini +13 more
wiley +1 more source
, 2003 本研究の目的は，随伴性陰性変動（CNV）の解消過程の個体発達に伴う変化と視覚短期記憶，聴覚短期記憶，視空間構成能力，実行機能などの認知発達との関係をとらえ，CNV解消課程が，どのような認知発達と関係するか検証することである．また，CNV解消課程と認知機能発達との関係が，P300と認知機能発達との関係とどう異なるかについても見た． ７～24歳（平均14歳２ヶ月±５歳７ケ月）の15名を対象に，CNV，CNV解消課程，P300を測定し，同時に実施した４種の認知検査（WISC-Ⅲの「数唱」，「積木模様」，K ...
船瀬, 広三 +2 more
core
Epilepsia, EarlyView.Abstract In a clinical setting, exome sequencing (ES) with copy number variant (CNV) analysis is currently the most effective approach for developmental and epileptic encephalopathies (DEE). However, trio‐based ES is often not feasible in adults, its costs remain prohibitive in certain health care settings, and computational tools for CNV calling still
Laura Licchetta +10 more
wiley +1 more source
Epilepsia, EarlyView.Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta +26 more
wiley +1 more source
, 2020 Importance: Recurrent microdeletions and duplications in the genomic region 15q11.2 between breakpoints 1 (BP1) and 2 (BP2) are associated with neurodevelopmental disorders.
ENIGMA-CNV Working Group
core
Oligogenic inheritance in epilepsy: A systematic exome‐wide analysis
Epilepsia, EarlyView.Abstract Objective Genetic factors contribute to the majority of epilepsies, but the exact genetic cause remains unknown in most patients. Incomplete penetrance and variable expressivity are frequent, and recent studies showed a burden of deleterious variants in epilepsy genes, suggesting a role for oligogenic inheritance.
Sarah Duerinckx +192 more
wiley +1 more source