Results 91 to 100 of about 21,994 (342)

Super‐Refractory Status Epilepticus (SRSE) in a Patient With Compound Heterozygous OPA1 Variants: Case Report and Literature Review

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Super‐Refractory Status Epilepticus (SRSE) is a rare, life‐threatening neurological emergency with unclear etiology in many cases. Mitochondrial dysfunction, often due to disease‐causing genetic variants, is increasingly recognized as a cause, with each gene producing distinct pathophysiological mechanisms.
Pouria Mohammadi, Lara Basovic, Christopher Michael McGraw   +2 more
wiley   +1 more source

International conventions and the regulation of migration : The convention on the rights of the child and Sweden

, 2012
It is a contested issue to what extent international conventions on human rights actually constrain states. While earlier shown that courts may invoke international conventions, this article investigates to what extent legislators, when it comes to ...
Andersson, Hans E.,
core   +1 more source

Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina, Anna Marcé‐Grau, Barbara Masotto, Marta Codina, Lamia BenJemaa, Yasmina Elaribi, Mónica Martinez‐Gallo, Roger Colobran, Angel Sanchez‐Montañez, Irene Valenzuela, Yoshiko Murakami, Alfons Macaya   +11 more
wiley   +1 more source

Much Ado about Nothing? : The Road to the Incorporation of the UN Convention on the Rights of the Child in Sweden

, 2019
Article 4 of the UN Convention on the Rights of the Child stipulates that state parties have a positive obligation to implement the necessary legal measures to secure the rights recognised in the Convention.
Thorburn Stern, Rebecca,
core   +1 more source

RATIFIKASI KONVENSI TENTANG HAK-HAK ANAK DALAM SISTEM PERATURAN PERUNDANG-UNDANGAN DI INDONESIA

Yuridika, 2017
The Convention on the Rights of the Child (CRC) is the most comprehensive human rights treaty and legal instrument for the promotion and protection of children’s rights.
Zendy Wulan Ayu Widhi Prameswari
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
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, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

From International Mandate to National Legislation: Pakistan’s Response to Erga Omnes Obligations on Child Sexual Abuse

Journal of Legal Studies
This article critically assesses Pakistan’s compliance with erga omnes obligations under the Convention on the Rights of the Child (CRC) concerning sexual abuse of children.
Ali Muhammad Imran
doaj   +1 more source

A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling, Mark D. Parker, Sven Kerst, Richard A. Pasternack, Jacob Tondreau, Marjolein Breur, Gemma M. van Rooijen‐van Leeuwen, Davide Tonduti, Ettore Salsano, Alejandra Darling, Joanna A. E. van Wijk, Susanna Törnroth‐Horsefield, Marianna Bugiani, Petra J. W. Pouwels, Quinten Waisfisz, Marjo S. van der Knaap, Rogier Min   +16 more
wiley   +1 more source

A future of mess, confusion and complexity? Linking children’s rights and knowledge management in a critical research agenda beyond 25 years of the Convention on the Rights of the Child

, 2016
The twenty-fifth anniversary of the Convention on the Rights of the Child (CRC) provided an ideal opportunity for researchers, policy-makers and practitioners to take stock of where we stand with children’s rights. What can we learn from the past quarter
Sloth-Nielsen, Juliaeditor, Lembrechts, SaraRE220001405032848020034899150000-0002-7056-7323d0f6b8b9-ec48-11ea-8cf2-d803c73da0b6, Liefaard, Toneditor   +2 more
core  

Rights [PDF]

, 2007
This article provides an overview of different types of rights to aid consideration of, and debate about, children and young people’s rights in the context of paediatrics and child health.
Paul, Moli
core   +1 more source