[HTML][HTML] West syndrome: a comprehensive review
P Pavone, A Polizzi, SD Marino, G Corsello… - Neurological …, 2020 - Springer
Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …
Genetic testing for the epilepsies: a systematic review
BR Sheidley, J Malinowski, AL Bergner, L Bier… - …, 2022 - Wiley Online Library
Objective Numerous genetic testing options for individuals with epilepsy have emerged over
the past decade without clear guidelines regarding optimal testing strategies. We performed …
the past decade without clear guidelines regarding optimal testing strategies. We performed …
ILAE classification and definition of epilepsy syndromes with onset in neonates and infants: Position statement by the ILAE Task Force on Nosology and Definitions
SM Zuberi, E Wirrell, E Yozawitz, JM Wilmshurst… - …, 2022 - Wiley Online Library
Abstract The International League Against Epilepsy (ILAE) Task Force on Nosology and
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Definitions proposes a classification and definition of epilepsy syndromes in the neonate …
Infantile spasms: outcome in clinical studies
R Riikonen - Pediatric neurology, 2020 - Elsevier
Children with infantile spasms are likely to have a poor outcome. Outcome measures for
infantile spasms include primary response to treatment, relapse of spasms, neurological …
infantile spasms include primary response to treatment, relapse of spasms, neurological …
Increased electroencephalography connectivity precedes epileptic spasm onset in infants with tuberous sclerosis complex
PE Davis, K Kapur, R Filip‐Dhima, SK Trowbridge… - …, 2019 - Wiley Online Library
Objective To identify whether abnormal electroencephalography (EEG) connectivity is
present before the onset of epileptic spasms (ES) in infants with tuberous sclerosis complex …
present before the onset of epileptic spasms (ES) in infants with tuberous sclerosis complex …
[HTML][HTML] Steps to improve precision medicine in epilepsy
S Balestrini, D Mei, SM Sisodiya, R Guerrini - Molecular Diagnosis & …, 2023 - Springer
Precision medicine is an old concept, but it is not widely applied across human health
conditions as yet. Numerous attempts have been made to apply precision medicine in …
conditions as yet. Numerous attempts have been made to apply precision medicine in …
Clinical severity is correlated with age at seizure onset and biophysical properties of recurrent gain of function variants associated with SCN8A‐related epilepsy
KM Chung, J Hack, J Andrews, M Galindo‐Kelly… - …, 2023 - Wiley Online Library
Objective Genetic variants in the SCN8A gene underlie a wide spectrum of
neurodevelopmental phenotypes including several distinct seizure types and a host of …
neurodevelopmental phenotypes including several distinct seizure types and a host of …
Infantile spasms: assessing the diagnostic yield of an institutional guideline and the impact of etiology on long‐term treatment response
N Chourasia, CJ Yuskaitis, MH Libenson… - …, 2022 - Wiley Online Library
Objective Neuroimaging and genetic testing have been proposed for diagnostic evaluation
of infantile spasms (IS), establishing etiology in~ 60% of multicenter IS cohorts. A …
of infantile spasms (IS), establishing etiology in~ 60% of multicenter IS cohorts. A …
Landscape of genetic infantile epileptic spasms syndrome—A multicenter cohort of 124 children from India
B Nagarajan, VK Gowda, S Yoganathan… - Epilepsia …, 2023 - Wiley Online Library
Objective Literature on the genotypic spectrum of Infantile Epileptic Spasms Syndrome
(IESS) in children is scarce in developing countries. This multicentre collaboration evaluated …
(IESS) in children is scarce in developing countries. This multicentre collaboration evaluated …
Effectiveness of corticosteroids versus adrenocorticotropic hormone for infantile spasms: a systematic review and meta‐analysis
YH Chang, C Chen, SH Chen… - Annals of Clinical and …, 2019 - Wiley Online Library
Objective To compare the therapeutic effectiveness of oral corticosteroids with that of
adrenocorticotrophic hormone for infantile spasms. Methods PubMed, Embase, Scopus, and …
adrenocorticotrophic hormone for infantile spasms. Methods PubMed, Embase, Scopus, and …