Results 1 to 10 of about 7,582 (137)

Neurotransmission Sex Dichotomy in the Rat Hypothalamic Paraventricular Nucleus in Healthy and Infantile Spasm Model [PDF]

open access: yesCurrent Issues in Molecular Biology
We profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas   +6 more
doaj   +2 more sources

Infantile Spasms in Pediatric Down Syndrome: Potential Mechanisms Driving Therapeutic Considerations [PDF]

open access: yesChildren
Infantile spasms are common in Down Syndrome (DS), but the mechanisms by which DS predisposes to this devastating epilepsy syndrome are unclear.
Carl E. Stafstrom, Li-Rong Shao
doaj   +2 more sources

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei   +4 more
wiley   +1 more source

Brain Magnetic Resonance Imaging Findings in Infantile Spasms

open access: yesNeurology International, 2022
Background: Infantile spasms are an age-specific epileptic disorder. They occur in infancy and early childhood. They can be caused by multiple etiologies. Structural abnormalities represent an important cause of infantile spasms. Brain magnetic resonance
Osama Y. Muthaffar
doaj   +1 more source

Seizure Prediction Analysis of Infantile Spasms

open access: yesIEEE Transactions on Neural Systems and Rehabilitation Engineering, 2023
Infantile spasms (IS) is a typical childhood epileptic disorder with generalized seizures. The sudden, frequent and complex characteristics of infantile spasms are the main causes of sudden death, severe comorbidities and other adverse consequences ...
Runze Zheng   +5 more
doaj   +1 more source

Brazilian experts' consensus on the treatment of infantile epileptic spasm syndrome in infants

open access: yesArquivos de Neuro-Psiquiatria, 2023
Background Infantile epileptic spasms syndrome (IESS) is a rare but severe condition affecting children early and is usually secondary to an identifiable brain disorder.
Letícia Pereira de Brito Sampaio   +7 more
doaj   +1 more source

Teleneurology based management of infantile spasms during COVID-19 pandemic: A consensus report by the South Asia Allied West syndrome research group

open access: yesEpilepsy & Behavior Reports, 2021
With telehealth services rescuing patients with chronic neurological disorders during the COVID-19 pandemic, there is a need for simplified teleneurology protocols for neurological disorders in children.
Priyanka Madaan   +10 more
doaj   +1 more source

EPILEPTIC SPASMS

open access: yesРусский журнал детской неврологии, 2015
Epileptic spasms are epileptic seizures with sudden flexion/extension or of the mixed flexion and extension type, mainly involving the proximal and truncal muscles, that are normally longer than myoclonic seizures but shorter than tonic seizures, and ...
K. Yu. Mukhin, M. B. Mironov
doaj   +1 more source

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED

open access: yesFrontiers in Neurology, 2021
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano   +9 more
doaj   +1 more source

A pulse rapamycin therapy for infantile spasms and associated cognitive decline

open access: yesNeurobiology of Disease, 2011
Infantile spasms are seizures manifesting within a spectrum of epileptic encephalopathies of infancy that often lead to cognitive impairment. Their current therapies, including adrenocorticotropic hormone (ACTH), high dose steroids, or vigabatrin, are ...
Emmanuel Raffo   +4 more
doaj   +1 more source

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