Results 71 to 80 of about 2,875,412 (170)
Neonatal neuroimaging and neurophysiology predict infantile onset epilepsy after perinatal hypoxic ischemic encephalopathy [PDF]
, 2020 Correction: Volume88, Page158-158 DOI10.1016/j.seizure.2021.04.001 PublishedMAY 2021Purpose: To evaluate the accuracy of hypoxic ischemic encephalopathy (HIE) grade, and neonatal neurophysiological and neuroimaging measures for predicting development of ...
Lauronen, Leena +6 more
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Gut Microbiota Composition and Modulation in Developmental and Epileptic Encephalopathies
European Journal of Neuroscience, Volume 62, Issue 4, August 2025.Clinical studies link gut microbiota (GM) composition to adrenocorticotropic hormone (ACTH) treatment response. In infantile epileptic spasms syndrome (IESS) mouse models, GM modulation via antibiotics, ketogenic diet (KD), fecal transplantation, or probiotics reduced epileptic spasms, while in Dravet syndrome (DS) models, the KD showed no anti‐seizure
Takwa Ammar +3 more
wiley +1 more source
An Approach to Neurometabolic Epilepsy in Children with an Underlying [PDF]
, 2020 ObjectiveAlthough in born errors of metabolism are rare, but total prevalence is . approximately 40-60% of IEM (inborn errors of metabolism)may present with epilepsy as one of the main clinical presentations and substantial number of them have specific ...
Habibi, Parinaz, Karimzadeh, Parvaneh
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The Two Faces of Pediatric SCA2
European Journal of Neurology, Volume 32, Issue 8, August 2025.We report 22 children with SCA2 and a review of the literature (20 patients). Two pediatric forms appear to be distinct (infantile and juvenile). Figure created with https://BioRender.com. ABSTRACT Introduction Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurological disease usually described in adults.
Nicolas Rive Le Gouard +36 more
wiley +1 more source
ALG11-CDG syndrome: Expanding the phenotype. [PDF]
, 2019 ALG11-Congenital Disorder of Glycosylation (ALG11-CDG, also known as congenital disorder of glycosylation type Ip) is an inherited inborn error of metabolism due to abnormal protein and lipid glycosylation.
Brown, Candida +7 more
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Advanced Science, Volume 12, Issue 21, June 5, 2025.Box C/D snoRNP complex regulates protein translation. This study identifies ZNHIT3 as a key component of the complex and ensures normal protein expression, including transcription factors orchestrating cell fate commitment, during early mouse embryogenesis.
Guanghui Yang, Qiliang Xin, Jurrien Dean
wiley +1 more source
Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease [PDF]
, 2011 Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early
Bae, Sun Hwan +7 more
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Seizure initiation in infantile spasms vs. focal seizures: proposed common cellular mechanisms [PDF]
, 2020 Infantile spasms (IS) and seizures with focal onset have different clinical expressions, even when electroencephalography (EEG) associated with IS has some degree of focality.
Baldeweg, T +5 more
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Functional network and spectral analysis of clinical EEG data to identify quantitative biomarkers and classify brain disorders [PDF]
, 2016 Many cognitive and neurological disorders today, such as Autism Spectrum Disorders (ASD) and various forms of epilepsy such as infantile spasms (IS), manifest as changes in voltage activity recorded in scalp electroencephalograms (EEG).
Matlis, Sean Eben Hill
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Genetic Landscape of Epilepsy of Infancy with Migrating Focal Seizures [PDF]
, 2019 OBJECTIVE: Epilepsy of infancy with migrating focal seizures (EIMFS) is one of the most severe developmental and epileptic encephalopathies. We delineate the genetic causes and genotype-phenotype correlations of a large EIMFS cohort.
Boysen, KE +18 more
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