Results 131 to 140 of about 172,842 (307)

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

open access: yesEpileptic Disorders, EarlyView.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini   +6 more
wiley   +1 more source

Women with epilepsy: Evidence‐based counseling across the lifespan

open access: yesEpilepsia, EarlyView.
Abstract Women with epilepsy (WWE) encounter distinct and evolving challenges across the lifespan that require clinical management extending beyond seizure control alone. Although awareness of sex‐specific aspects of epilepsy has increased, important gaps remain in their integration into routine care.
Barbara Tettenborn   +7 more
wiley   +1 more source

Antimicrobial Stewardship in Pediatrics

open access: yesAntibiotics
Since the discovery of antibiotics in the early 20th century, significant changes have occurred in their usage principles [...]
Radoslaw Jaworski   +1 more
doaj   +1 more source

The triple challenges associated with age-related comorbidities in Down syndrome [PDF]

open access: yes, 2014
Background Major increases in the survival of people with Down syndrome during the last two generations have resulted in extended periods of adulthood requiring specialist care, which in turn necessitates greater understanding of the nature, timing and ...
Bittles, A.H., Dye, D.E., Glasson, E.J.
core   +1 more source

Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis: A shared phenotype across brain‐expressed sodium channelopathies

open access: yesEpilepsia, EarlyView.
Abstract Objective Neonatal developmental and epileptic encephalopathy with movement disorder and arthrogryposis (NDEEMA) represents the most severe end of the gain‐of‐function (GOF) SCN1A disorder spectrum. Sporadic cases of congenital arthrogryposis have also been reported in individuals with SCN2A‐, SCN3A‐, and SCN8A‐related developmental and ...
Sopio Gverdtsiteli   +43 more
wiley   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

open access: yesEpilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

Genetic epilepsies with myoclonic seizures: Mechanisms and syndromes

open access: yesEpilepsia Open, EarlyView.
Abstract Genetic epilepsy with myoclonic seizures encompasses a heterogeneous spectrum of conditions, ranging from benign and self‐limiting forms to severe, progressive disorders. While their causes are diverse, a significant proportion stems from genetic abnormalities.
Antonietta Coppola   +3 more
wiley   +1 more source

Mothers of children with congenital heart defects: the effects of ethnicity and education on perceptions, attitudes and feelings; (Implications for social work practice) [PDF]

open access: yes, 1963
Thesis (M.S.)--Boston University ...
Feinstein, Barbara   +5 more
core   +1 more source

ILAE dietary treatments task force special report: Maternal ketogenic diet exposure in epilepsy pregnancy registries—A call to action

open access: yesEpilepsia Open, EarlyView.
Abstract Ketogenic dietary therapies (KDTs) are increasingly used worldwide as a non‐pharmacological treatment for epilepsy, including among people of childbearing potential. In many cases, KDTs allow for the reduction of antiseizure medications (ASMs) and lower drug exposure during pregnancy.
Magnhild Kverneland   +7 more
wiley   +1 more source

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