Early changes in pro-inflammatory cytokine levels in neonates with encephalopathy are associated with remote epilepsy. [PDF]
, 2019 BackgroundNeonatal seizures are associated with adverse neurologic sequelae including epilepsy in childhood. Here we aim to determine whether levels of cytokines in neonates with brain injury are associated with acute symptomatic seizures or remote ...
Barkovich, A James +6 more
core
Ketogenic diets therapy in the management of epileptic spasms syndrome
Frontiers in PediatricsInfantile Epileptic Spasm Syndrome (IESS) is a group of infantile spasm syndromes of various etiologies that typically present in early infancy, predispose to refractory epilepsy, and leave intellectual disability.
Meng Wang +8 more
doaj +1 more source
The Morison Lectures ON EPILEPSY: Delivered before the Royal College of Physicians of Edinburgh [PDF]
, 1910 W. A. Turner
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Quantification of respiratory parameters in patients with temporal lobe epilepsy [PDF]
, 2007 Dysfunction affecting cardiac or pulmonary systems has been postulated as a major factor in sudden death in epilepsy (SUDEP). Whilst the majority of studies of cardiorespiratory function have focused on changes during seizures, here we investigate ...
Abreu, AMF +8 more
core
A New EP300‐Related Syndrome With Prominent Developmental and Immune Phenotypes
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein Taybi syndrome (RTS) is a disorder of chromatin remodeling and transcriptional regulation caused by heterozygous pathogenic variants in CREBBP and EP300. RTS is characterized by a distinct facial gestalt, intellectual disability, structural kidney and heart differences, feeding difficulties, and broad thumbs and great toes ...
Devi Priyanka Maripuri +3 more
wiley +1 more source
Expanding the Tyrosine Kinase Domain of CSF1R? A Case Report From an Adult‐Onset Leukoencephalopathy
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Adult‐onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP), also termed hereditary diffuse leukoencephalopathy with spheroids‐1 (HDLS1), results from mutations in the CSF1R gene and leads to progressive leukoencephalopathy.
Piervito Lopriore +11 more
wiley +1 more source
EPIDetect: Video-based convulsive seizure detection in chronic epilepsy mouse model for anti-epilepsy drug screening [PDF]
arXivIn the preclinical translational studies, drug candidates with remarkable anti-epileptic efficacy demonstrate long-term suppression of spontaneous recurrent seizures (SRSs), particularly convulsive seizures (CSs), in mouse models of chronic epilepsy.
arxiv
A STUDY OF THE RELATIONSHIP OF CONVULSIONS IN INFANCY AND CHILDHOOD TO EPILEPSY [PDF]
, 1919 J. L. MORSE
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Cohesins: Crossroad Between Cornelia de Lange Spectrum and Cancer Predisposition
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The cohesin complex plays crucial roles in DNA repair, chromatid separation, and gene transcription regulation. Pathogenic variants in cohesins or dysfunctional transcriptional regulators lead to cohesinopathies, a broader group of disorders including Cornelia de Lange Spectrum (CdLSp), for which the prevalence of cancer cases remains unclear.
Laura Rigotti +11 more
wiley +1 more source