Results 101 to 110 of about 3,613 (236)
"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
Epilepsia, EarlyView.Abstract Objective Timely diagnosis and effective treatment of Lennox–Gastaut syndrome (LGS) improve prognosis and lower health care costs, but the transition from infantile epileptic spasms syndrome (IESS) to LGS is highly variable and insidious. Objective biomarkers are needed to monitor this progression and guide clinical decision‐making. Methods We
Blanca Romero Milà +11 more
wiley +1 more source
ACTH treatment of infantile spasms: mechanisms of its effects in modulation of neuronal excitability. [PDF]
, 2002 The efficacy of ACTH, particularly in high doses, for rapid and complete elimination of infantile spasms (IS) has been demonstrated in prospective controlled studies. However, the mechanisms for this efficacy remain unknown.
Avishai-Eliner, S +2 more
core +1 more source
JIMD Reports, Volume 67, Issue 2, March 2026.ABSTRACT Succinate dehydrogenase (SDH) serves a dual function as complex II of the electron transport chain and an enzyme of the tricarboxylic acid cycle. Pathogenic variants in subunits of SDH result in diverse clinical presentations, including typically autosomal recessive neurodegenerative disorders. Biallelic variants in the SDHA subunit most often
Aaron B. Bowen +7 more
wiley +1 more source
American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 502-510, February 2026.ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio +12 more
wiley +1 more source
Infantile spasms: hypothesis-driven therapy and pilot human infant experiments using corticotropin-releasing hormone receptor antagonists. [PDF]
, 1999 Background and rationaleInfantile spasms (IS) are an age-specific seizure disorder occurring in 1:2,000 infants and associated with mental retardation in approximately 90% of affected individuals. The costs of IS in terms of loss of lifetime productivity
Baram, TZ +3 more
core
Epidemiology of Infantile Spasms in Iceland
Pediatric Neurology Briefs, 1994 Incidence, etiology, development, EEG, response to ACTH, and follow-up of all cases of infantile spasms diagnosed in Iceland during a 10-year period are reported from the National University Hospital, Reykjavik, Iceland, and Columbia University, New York.
J Gordon Millichap
doaj +1 more source
Theophylline-Induced Infantile Spasms
Pediatric Neurology Briefs, 1995 Infantile spasms and hypsarrhythmia developed in a 6-month-old infant with asthma after 3 days treatment with theophylline at the Royal Belfast Hospital for Sick Children, Northern Ireland.
J Gordon Millichap
doaj +1 more source
The acrocallosal syndrome: A case report and literature survey [PDF]
, 2009 Acrocallosal syndrome (ACS) is a rare, genetically transmitted disorder characterized by facial deformities. These include a large forehead, large anterior fontanelle, broad nasal bridge with increased intercanthal distance, partial or complete agenesis ...
Davies, Lindsey +2 more
core +1 more source
Novel characterization method of impedance cardiography signals using time-frequency distributions [PDF]
, 2018 The purpose of this document is to describe a methodology to select the most adequate time-frequency distribution (TFD) kernel for the characterization of impedance cardiography signals (ICG). The predominant ICG beat was extracted from a patient and was
Escrivá Muñoz, Jesús +4 more
core +2 more sources