Results 81 to 90 of about 15,063 (315)

Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy [PDF]

open access: yes, 2019
Recent studies have shown that neurologic inflammation may both precipitate and sustain seizures, suggesting that inflammation may be involved not only in epileptogenesis but also in determining the drug-resistant profile.
Corsello G   +5 more
core   +1 more source

Retrospective, Multicenter Study of Lacosamide to Treat Neonatal Seizures

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Most antiseizure medications (ASMs) are prescribed off label for neonates. Lacosamide's efficacy in infants and availability in intravenous formulation suggest potential utility for neonates. We evaluated the safety and efficacy of lacosamide for neonatal seizures. Methods This 10‐center, retrospective study of neonates with seizures
Alexandra Santana Almansa   +15 more
wiley   +1 more source

Heterozygous GABAA receptor β3 subunit N110D knock‐in mice have epileptic spasms [PDF]

open access: green, 2022
Shimian Qu   +11 more
openalex   +1 more source

Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]

open access: yes, 2011
Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW   +10 more
core   +2 more sources

Lesions Associated With Autism Symptoms Map to a Cerebellar Brain Network in Tuberous Sclerosis Complex

open access: yesAnnals of the Child Neurology Society, EarlyView.
ABSTRACT Objective Autism spectrum disorder (ASD) affects 1 in 36 individuals in the United States and is characterized by impaired social communication and restrictive/repetitive behaviors. Individuals with tuberous sclerosis complex (TSC) have a high incidence of ASD (40%) and exhibit congenital brain lesions (tubers), offering a unique lesion‐based ...
Wendy Xiao Herman   +10 more
wiley   +1 more source

Cerebrospinal fluid corticotropin and cortisol are reduced in infantile spasms. [PDF]

open access: yes, 1995
Infantile spasms respond to ACTH, and levels of the hormone in cerebrospinal fluid of untreated infants with this disorder were found to be lower than in age-matched controls. In this study we analyzed cerebrospinal fluid cortisol and ACTH using improved
Baram, TZ   +4 more
core   +2 more sources

New variants and genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy

open access: yesFrontiers in Neuroscience
ObjectiveTo explore the genotypic spectrum and refine the genotype-phenotype correlation of PPP3CA-related developmental and epileptic encephalopathy (DEE).Methodswhole-exome sequencing or whole-genome sequencing was performed to all patients.
Ting Wang   +9 more
doaj   +1 more source

Epileptic spasms are a feature of DEPDC5 mTORopathy [PDF]

open access: yesNeurology Genetics, 2015
To assess the presence of DEPDC5 mutations in a cohort of patients with epileptic spasms.We performed DEPDC5 resequencing in 130 patients with spasms, segregation analysis of variants of interest, and detailed clinical assessment of patients with possibly and likely pathogenic variants.We identified 3 patients with variants in DEPDC5 in the cohort of ...
Carvill, GL   +16 more
openaire   +4 more sources

Resolution of generalized tonic seizures following focal ablative or resective surgery

open access: yesEpileptic Disorders, EarlyView.
Abstract Objective Focal brain lesions may underlie generalized tonic seizures, as seen in Lennox–Gastaut syndrome, by engaging bilateral neural networks. However, this seizure type is often not considered surgically remediable. Here, we describe the resolution of apparent electroclinically classic generalized tonic seizures in children originating ...
Sem L. Kampman   +3 more
wiley   +1 more source

The epilepsy phenotype of ST3GAL3‐related developmental and epileptic encephalopathy

open access: yesEpilepsia Open, 2023
Objective ST3GAL3‐related developmental and epileptic encephalopathy (DEE‐15) is an autosomal recessive condition characterized by intellectual disability, language and motor impairments, behavioral difficulties, stereotypies, and epilepsy.
Robyn Whitney   +6 more
doaj   +1 more source

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