Results 51 to 60 of about 132,025 (234)
Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
Children, 2020 Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot, Li-Rong Shao, C. Stafstrom
semanticscholar +1 more source
UK Infantile Spasms Study: Effect of Time to Treatment and Age at Onset on Developmental Outcome
Pediatric Neurology Briefs, 2011 The effects of lead time to treatment (time from onset of spasms to start of treatment), age at onset of spasms, etiology, and treatment on developmental outcome at 4 years were investigated using multiple linear regression in 77 infants with spasms ...
J Gordon Millichap
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American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The MT‐ATP6 gene m.8993T>G pathogenic variant has been associated with Leigh syndrome, especially in patients exhibiting a high degree of heteroplasmy. Although patients may present with a wide phenotypic spectrum, characteristic findings include bilateral, symmetric hyperintensities in the basal ganglia and brainstem on brain MRI ...
Ramya Treitel +2 more
wiley +1 more source
Mortality in infantile spasms: A hospital‐based study
Epilepsia, 2020 To determine risk factors and causes for mortality during childhood in patients with infantile spasms (IS). We describe the overall goals of care for those who died.
C. Harini +13 more
semanticscholar +1 more source
Genome‐Wide Insights and Polygenic Risk Scores in Common Epilepsies: A Narrative Review
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT The research of single gene‐related disorders or pathogenic copy‐number variations (CNVs) has given a significant impetus to the shift from a diagnostic work‐up focused on epileptic syndromes to genomic approaches in individuals with severe pediatric‐onset epilepsies and in developmental and epileptic encephalopathies.
Mario Mastrangelo +5 more
wiley +1 more source
Infantile Spasms: Opportunities to Improve Care
Seminars in neurology, 2020 Infantile spasm (IS) is a distinct epilepsy syndrome characterized by epileptic spasms (the clinical seizure type) and hypsarrhythmia (the electrographic abnormality). IS is frequently accompanied by impaired neurodevelopment and is often associated with
Ricka Messer, K. Knupp
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Epilepsy & 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
Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms. [PDF]
PLoS ONE, 2018 Infantile spasms are the defining seizures of West syndrome, a severe form of early life epilepsy with poorly-understood pathophysiology. We present a novel comparative analysis of infants with spasms versus other seizure-types and identify clinical ...
Anne T Berg +21 more
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Crisis Standard of Care: Management of Infantile Spasms during COVID‐19
Annals of Neurology, 2020 The Child Neurology Society collaborated with the Pediatric Epilepsy Research Consortium to issue an online statement April 6, 2020 of immediate recommendations to streamline diagnosis, treatment, and follow up of infantile spasms.
Z. Grinspan +25 more
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HCN2‐Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
Annals of Neurology, EarlyView.Objective We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization‐activated cyclic nucleotide (HCN) gated channel 2. Methods GeneMatcher facilitated the recruitment of 21 individuals with HCN2 variants from 15 unrelated families, carrying HCN2 variants.
Clara Houdayer +52 more
wiley +1 more source