Results 51 to 60 of about 138,344 (267)
Epilepsy is the most common serious childhood neurological disorder. In the low- and middle-income countries (LMICs) of Africa, children with epilepsy suffer increased morbidity and mortality compared to their counterparts in high-income countries, and ...
Muktar H. Aliyu +26 more
doaj +1 more source
Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Pendidikan Perdamaian untuk Anak Usia Dini di Tengah Budaya Kekerasan
. This article discusses an alternative offer to deal with the culture of violence that occurs around early childhood. Therefore, early childhood slowly needs to be made aware of a culture of violence and strategies for dealing with it simply according ...
Paulus Eko Kristianto
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RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
This study focused on the impacts of culture and religious diversity on Early Childhood Development (ECD) learners a case of primary schools in Mudzi District of Mashonaland East Province, Zimbabwe.
Ottiliah Musweweshiri
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Childhood and Children’s Retrospective Media Consumption Experiences: The case of Norway
The focus in this article is on childhood and consumer culture with a special view on children’s media experiences retrospective. A historical perspective is applied as history provides an opportunity to reflect on changing processes within contemporary ...
Korsvold Tora
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Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni +19 more
wiley +1 more source
Changes in policy within the Ministry of Education and Culture of the Republic of Indonesia in 2020 manifested from the issuance of Minister of Education and Culture Regulation (Permendikbud) No. 9 of 2020.
Pamungkas, Alim Harun
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Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
This article presents aspects of imagination and culture of Brazilian girls and boys of Sao Paulo childhood education from some of his drawings. In dialogue with studies of sociology and anthropology it is considered that the drawings are documentary ...
Marcia Aparecida Gobbi
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