Results 181 to 190 of about 54,065 (253)

Expanding the electroclinical spectrum of TANC2‐related disorders: Lennox–Gastaut syndrome and related developmental epileptic phenotypes

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Neurodevelopmental disorders (NDDs) and epilepsy are often associated. Increasing evidence highlights a pivotal role for pathogenic variants in genes encoding synaptic scaffolding proteins. Within this group, TANC2 has recently been implicated in intellectual developmental disorder with autistic features and language delay, with or ...
Lorenzo Perilli   +12 more
wiley   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

open access: yesEpilepsia Open, EarlyView.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi   +10 more
wiley   +1 more source

Response to anti‐seizure medications in children carrying novel or previously reported HCN1 gene variants

open access: yesEpilepsia Open, EarlyView.
Abstract Objective Variants in the HCN1 gene cause a syndrome of childhood epilepsy and developmental disability with a broad phenotypic range. Many affected children manifest with early infantile epileptic encephalopathy (EIEE) and highly drug‐resistant epilepsy.
Marium N. Khan, Nicholas P. Poolos
wiley   +1 more source

Psychopharmacological Prescribing Patterns Among Italian Adolescents With Anorexia Nervosa: Exploring Real‐World Treatment Practices

open access: yesEuropean Eating Disorders Review, EarlyView.
ABSTRACT Objective To investigate real‐world psychopharmacological prescribing patterns among Italian adolescents with anorexia nervosa (AN) compared with psychiatric controls without eating disorders, and to examine whether AN diagnosis independently predicts medication use after accounting for psychiatric comorbidities.
Marika Orlandi   +5 more
wiley   +1 more source

The Effect of Maternal Pertussis Vaccination on Neonatal Health Outcomes in the Dutch Pregnancy Drug Register. [PDF]

open access: yesBirth Defects Res
Woestenberg PJ   +7 more
europepmc   +1 more source

Development of a Zebrafish Embryo‐Based Test System for Thyroid Hormone System Disruption: 3Rs in Ecotoxicological Research

open access: yesEnvironmental Toxicology and Chemistry, EarlyView.
Abstract There is increasing concern regarding pollutants disrupting the vertebrate thyroid hormone (TH) system, which is crucial for development. Thus, identification of TH system–disrupting chemicals (THSDCs) is an important requirement in the Organisation for Economic Co‐operation and Development (OECD) testing framework.
Lisa Gölz   +9 more
wiley   +1 more source

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