FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2146552611> ?p ?o ?g. }

• W2146552611 endingPage "751" @default.
• W2146552611 startingPage "739" @default.
• W2146552611 abstract "The current spectrum of disorders associated to clinical spasms with onset in infancy is wider than previously thought; accordingly, its terminology has changed. Nowadays, the term Infantile spasms syndrome (ISs) defines an epileptic syndrome occurring in children younger than 1 year (rarely older than 2 years), with clinical (epileptic: i.e., associated to an epileptiform EEG) spasms usually occurring in clusters whose most characteristic EEG finding is hypsarrhythmia [the spasms are often associated with developmental arrest or regression]. The term West syndrome (WS) refers to a form (a subset) of ISs, characterised by the combination of clustered spasms and hypsarrhythmia on an EEG and delayed brain development or regression [currently, it is no longer required that delayed development occur before the onset of spasms]. Less usually, spasms may occur singly rather than in clusters [infantile spasms single-spasm variant (ISSV)], hypsarrhythmia can be (incidentally) recorded without any evidence of clinical spasms [hypsarrhythmia without infantile spasms (HWIS)] or typical clinical spasms may manifest in absence of hypsarrhythmia [infantile spasms without hypsarrhythmia (ISW)]. There is a growing evidence that ISs and related phenotypes may result, besides from acquired events, from disturbances in key genetic pathways of brain development: specifically, in the gene regulatory network of GABAergic forebrain dorsal–ventral development, and abnormalities in molecules expressed at the synapse. Children with these genetic associations also have phenotypes beyond epilepsy, including dysmorphic features, autism, movement disorders and systemic malformations. The prognosis depends on: (a) the cause, which gives origin to the attacks (the complex malformation forms being more severe); (b) the EEG pattern(s); (c) the appearance of seizures prior to the spasms; and (d) the rapid response to treatment. Currently, the first-line treatment includes the adrenocorticotropic hormone ACTH and vigabatrin. In the near future the gold standard could be the development of new therapies that target specific pathways of pathogenesis. In this article we review the past and growing number of clinical, genetic, molecular and therapeutic discoveries on this expanding topic." @default.
• W2146552611 created "2016-06-24" @default.
• W2146552611 creator A5031701354 @default.
• W2146552611 creator A5042053549 @default.
• W2146552611 creator A5069212819 @default.
• W2146552611 creator A5087176261 @default.
• W2146552611 creator A5088309302 @default.
• W2146552611 date "2014-10-01" @default.
• W2146552611 modified "2023-10-12" @default.
• W2146552611 title "Infantile spasms syndrome, West syndrome and related phenotypes: What we know in 2013" @default.
• W2146552611 cites W1506451370 @default.
• W2146552611 cites W1510757466 @default.
• W2146552611 cites W1564950754 @default.
• W2146552611 cites W1574898460 @default.
• W2146552611 cites W1711001628 @default.
• W2146552611 cites W1972120957 @default.
• W2146552611 cites W1978871510 @default.
• W2146552611 cites W1978977324 @default.
• W2146552611 cites W1983838887 @default.
• W2146552611 cites W1984065916 @default.
• W2146552611 cites W1985767850 @default.
• W2146552611 cites W1985770765 @default.
• W2146552611 cites W1986107939 @default.
• W2146552611 cites W1986634808 @default.
• W2146552611 cites W1988595550 @default.
• W2146552611 cites W1989418654 @default.
• W2146552611 cites W1990712607 @default.
• W2146552611 cites W1992597927 @default.
• W2146552611 cites W1993780720 @default.
• W2146552611 cites W1994565572 @default.
• W2146552611 cites W1995824742 @default.
• W2146552611 cites W1998171284 @default.
• W2146552611 cites W2000433421 @default.
• W2146552611 cites W2002869193 @default.
• W2146552611 cites W2003469323 @default.
• W2146552611 cites W2007484047 @default.
• W2146552611 cites W2008424230 @default.
• W2146552611 cites W2008753215 @default.
• W2146552611 cites W2009595149 @default.
• W2146552611 cites W2010029725 @default.
• W2146552611 cites W2010693096 @default.
• W2146552611 cites W2012528052 @default.
• W2146552611 cites W2016194769 @default.
• W2146552611 cites W2017320133 @default.
• W2146552611 cites W2017449705 @default.
• W2146552611 cites W2028162840 @default.
• W2146552611 cites W2030601923 @default.
• W2146552611 cites W2033596882 @default.
• W2146552611 cites W2041111435 @default.
• W2146552611 cites W2041910569 @default.
• W2146552611 cites W2042096171 @default.
• W2146552611 cites W2042298663 @default.
• W2146552611 cites W2044045754 @default.
• W2146552611 cites W2046087472 @default.
• W2146552611 cites W2046381118 @default.
• W2146552611 cites W2047102660 @default.
• W2146552611 cites W2047205288 @default.
• W2146552611 cites W2049197928 @default.
• W2146552611 cites W2056649843 @default.
• W2146552611 cites W2057671833 @default.
• W2146552611 cites W2059503744 @default.
• W2146552611 cites W2059780560 @default.
• W2146552611 cites W2060825909 @default.
• W2146552611 cites W2061682874 @default.
• W2146552611 cites W2063387119 @default.
• W2146552611 cites W2064474429 @default.
• W2146552611 cites W2066045052 @default.
• W2146552611 cites W2066779634 @default.
• W2146552611 cites W2070223478 @default.
• W2146552611 cites W2074306950 @default.
• W2146552611 cites W2075740644 @default.
• W2146552611 cites W2076319651 @default.
• W2146552611 cites W2077709913 @default.
• W2146552611 cites W2078469200 @default.
• W2146552611 cites W2079409532 @default.
• W2146552611 cites W2082907545 @default.
• W2146552611 cites W2084580886 @default.
• W2146552611 cites W2087793940 @default.
• W2146552611 cites W2088372616 @default.
• W2146552611 cites W2089355797 @default.
• W2146552611 cites W2095975331 @default.
• W2146552611 cites W2097684799 @default.
• W2146552611 cites W2099478180 @default.
• W2146552611 cites W2101566669 @default.
• W2146552611 cites W2115826968 @default.
• W2146552611 cites W2117519195 @default.
• W2146552611 cites W2121875955 @default.
• W2146552611 cites W2129439479 @default.
• W2146552611 cites W2138746419 @default.
• W2146552611 cites W2142989722 @default.
• W2146552611 cites W2146082584 @default.
• W2146552611 cites W2149779494 @default.
• W2146552611 cites W2151275022 @default.
• W2146552611 cites W2153360858 @default.
• W2146552611 cites W2154583306 @default.
• W2146552611 cites W2165358280 @default.
• W2146552611 cites W2166030842 @default.
• W2146552611 cites W2169062091 @default.

• next