RARS2 mutations in a sibship with infantile spasms [PDF]
, 2016 Pontocerebellar hypoplasia is a group of heterogeneous neurodevelopmental disorders characterized by reduced volume of the brainstem and cerebellum.
Bras, J +13 more
core +1 more source
"Electro-clinical Syndromes" with onset in Paediatric Age. the highlights of the clinical-EEG, genetic and therapeutic advances [PDF]
, 2011 The genetic causes underlying epilepsy remain largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited.
Alberto Verrotti +7 more
core +2 more sources
Lennox-Gastaut Syndrome: A State of the Art Review. [PDF]
, 2017 Lennox-Gastaut syndrome (LGS) is a severe age-dependent epileptic encephalopathy usually with onset between 1 and 8 years of age. Functional neuroimaging studies recently introduced the concept of Lennox-Gastaut as "secondary network epilepsy" resulting ...
Mastrangelo, Mario
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Management of Infantile Spasms During the COVID-19 Pandemic
Journal of Child Neurology, 2020 Circumstances of the COVID-19 pandemic have mandated a change to standard management of infantile spasms. On April 6, 2020, the Child Neurology Society issued an online statement of immediate recommendations to streamline diagnosis and treatment of ...
Z. Grinspan +24 more
semanticscholar +1 more source
Developmental Medicine & Child Neurology, 2020 To compare the efficacy and safety of prednisolone/prednisone and adrenocorticotropic hormone (ACTH) in the treatment of infantile spasms using a meta‐analysis of randomized controlled trials (RCTs).
Shaojun Li +4 more
semanticscholar +1 more source
PRRT2 gene variant in a child with dysmorphic features, congenital microcephaly, and severe epileptic seizures: genotype-phenotype correlation? [PDF]
, 2019 BACKGROUND: Mutations in Proline-rich Transmembrane Protein 2 (PRRT2) have been primarily associated with individuals presenting with infantile epilepsy, including benign familial infantile epilepsy, benign infantile epilepsy, and benign myoclonus of ...
Cho SY +8 more
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Risk for infantile spasms after acute symptomatic neonatal seizures
Epilepsia, 2020 Infantile spasms (IS) is a severe epilepsy in early childhood. Early treatment of IS provides the best chance of seizure remission and favorable developmental outcome.
Hannah C. Glass +11 more
semanticscholar +1 more source
A genomic copy number variant analysis implicates the MBD5 and HNRNPU genes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion [PDF]
, 2014 Background: Infantile spasms (IS) is a specific type of epileptic encephalopathy associated with severe developmental disabilities. Genetic factors are strongly implicated in IS, however, the exact genetic defects remain unknown in the majority of cases.
An, Yu +10 more
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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
Frontiers in Endocrinology, 2022 Recurrent and profound hypoglycemia is a leading cause of neonatal brain injury. Small-for-gestational-age infants are at risk of hypoglycemia due to substrate deficiency and hyperinsulinism. Inappropriate insulin secretion by the β-cells of the pancreas
Suresh Chandran +11 more
doaj +1 more source