Results 61 to 70 of about 24,501 (230)

Optimal approach to standardized documentation in epilepsy clinics: A scoping review

open access: yesEpilepsia, EarlyView.
Abstract Clear documentation and transfer of information between health care providers is key to ensuring the delivery of high‐quality patient care. Our aim was to determine how to optimize and standardize physician documentation in outpatient epilepsy clinics as well as to highlight challenges and barriers to their implementation.
Shahab Marzoughi   +8 more
wiley   +1 more source

Predictive value of seizure onset for gross motor dysfunction in individuals with pathogenic GABRB2 and GABRB3 variants

open access: yesEpilepsia, EarlyView.
Abstract Objective Pathogenic variants in γ‐aminobutyric acid type A (GABAA) receptor genes have been associated with a wide spectrum of neurological disorders. We aimed to delineate the clinical trajectories associated with gain‐of‐function (GoF) and loss‐of‐function (LoF) variants in GABRB2 and GABRB3, and to develop a risk‐prediction model for gross
Sebastian Ortiz   +73 more
wiley   +1 more source

Novel metaphors comprehension in a child with High-Functioning Autism Spectrum Disorders. A study on assessment and treatment [PDF]

open access: yes, 2017
Until the first decade of the current millennium, the literature on metaphor comprehension highlighted typical difficulties in children with high-functioning Autism Spectrum Disorder (ASD).
MELOGNO, Sergio   +2 more
core   +1 more source

Mechanisms of SCN2A loss of function do not predict presence or phenotype of epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective SCN2A loss‐of‐function (LoF) variants are associated with epilepsy (onset age ≥ 3 months), intellectual disability (ID), and autism spectrum disorder (ASD). Despite numerous identified variants and the description of phenotypic subgroups, relationships between Nav1.2 channel dysfunction and clinical phenotypes remain unclear.
Marsha Tan   +23 more
wiley   +1 more source

Autism and Epilepsy in Patients With Tuberous Sclerosis Complex

open access: yesFrontiers in Neurology, 2020
Introduction: Individuals with Tuberous Sclerosis Complex (TSC) are at increased risk of developing both epilepsy and autism spectrum disorder (ASD), but the relationship between these conditions is little understood.
Nicola Specchio   +10 more
doaj   +1 more source

Prenatal Neurogenesis in Autism Spectrum Disorders. [PDF]

open access: yes, 2016
An ever-increasing body of literature describes compelling evidence that a subset of young children on the autism spectrum show abnormal cerebral growth trajectories.
Kaushik, Gaurav   +1 more
core   +1 more source

Characterizing early behavioral and social–emotional problems in young children with SCN1A+ Dravet syndrome: Findings from the ENVISION prospective natural history study

open access: yesEpilepsia, EarlyView.
Abstract Objective Dravet syndrome (DS) is the prototypic developmental and epileptic encephalopathy, characterized by drug‐resistant seizures, developmental slowing, and many other morbidities. Detailed characterization of behavioral phenotypes and social–emotional skill development are limited.
Ingrid E. Scheffer   +26 more
wiley   +1 more source

Bidirectional sleep‐seizure interactions and orexin in a mouse model of tuberous sclerosis complex‐related epilepsy

open access: yesEpilepsia, EarlyView.
Abstract Objective A strong bidirectional relationship exists between epilepsy and sleep, with seizures often occurring more frequently in sleep and, in turn, sleep being disrupted by seizures. However, the mechanistic basis of seizure–sleep interactions is poorly understood.
Nicholas R. Rensing   +4 more
wiley   +1 more source

Infantile spasms: A prognostic evaluation

open access: yesAnnals of Indian Academy of Neurology, 2016
Background: Few papers address the comprehensive prognosis in infantile spasms and look into the seizure profile and psychomotor outcome. Objective: We aimed to follow up children with infantile spasms to study: a) the etiology, demographics, semiology ...
Mary Iype   +6 more
doaj   +1 more source

Unexpected finding of ingested magnetic toys in a child undergoing cerebral MRI

open access: yesJournal of Pediatric Surgery Case Reports, 2020
Ingestion of foreign bodies is most common in small children and older children with developmental disabilities and is not always clinically obvious.
Trine Kirkegaard Holtz   +3 more
doaj   +1 more source

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