TUBA1A-related tubulinopathy associated with the infantile epileptic spasms syndrome and atypical absence seizures. [PDF]
Epileptic DisordAbstract Patients with TUBA1A pathogenic variants may present with complex brain malformation, intellectual disability, and epilepsy. The epilepsy phenotype is varied, ranging from mild to severe, with epileptic spasms and focal seizures being the most common seizure types.
Ng AC, Scantlebury MH.
europepmc +2 more sources
Infantile spasms (West syndrome): update and resources for pediatricians and providers to share with parents [PDF]
, 2012 Background Infantile spasms (IS; West syndrome) is a severe form of encephalopathy that typically affects infants younger than 2 years old. Pediatricians, pediatric neurologists, and other pediatric health care providers are all potentially key early ...
Gibson, Patricia A. +6 more
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Infantile spams without hypsarrhythmia: A study of 16 cases [PDF]
, 2010 In this study, we present the electroclinical features and evolution of patients with epileptic spasms (ES) in clusters without hypsarrhythmia and with or without focal or generalized paroxysmal discharges on the interictal EEG.
Caraballo, Roberto Horacio +7 more
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Эпилепсия и пароксизмальные состояния, 2017 West syndrome is an epileptic syndrome, characterized by a triad of symptoms: infantile spasms, hypsarrhythmia on interictal EEG, and a regression or delay of psycho-motoric development.
T. G. Okhapkina +5 more
doaj +1 more source
Cerebrospinal fluid corticotropin and cortisol are reduced in infantile spasms. [PDF]
, 1995 Infantile spasms respond to ACTH, and levels of the hormone in cerebrospinal fluid of untreated infants with this disorder were found to be lower than in age-matched controls. In this study we analyzed cerebrospinal fluid cortisol and ACTH using improved
Baram, TZ +4 more
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Interrater reliability in visual identification of interictal high-frequency oscillations on electrocorticography and scalp EEG. [PDF]
, 2018 High-frequency oscillations (HFOs), including ripples (Rs) and fast ripples (FRs), are promising biomarkers of epileptogenesis, but their clinical utility is limited by the lack of a standardized approach to identification.
Bernardo, Danilo +5 more
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Network dynamics in the healthy and epileptic developing brain [PDF]
, 2017 Electroencephalography (EEG) allows recording of cortical activity at high temporal resolution. EEG recordings can be summarised along different dimensions using network-level quantitative measures, e.g.
Baier, G +3 more
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Compound heterozygous mutations in UBA5 causing early-onset epileptic encephalopathy in two sisters. [PDF]
, 2017 To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the top of the page marked FilesEpileptic encephalopathies are a group of childhood epilepsies that display high
Arnadottir, Gudny A +19 more
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Infantile spasms and developmental delay: A case of miller–Dieker syndrome
Indian Pediatrics Case Reports, 2023 Background: Miller–Dieker syndrome (MDS) is a rare genetic disorder, due to contiguous gene deletion on chromosome 17p13.3, characterized by classical type I lissencephaly, severe developmental delay, seizures, cardiac defects, and dysmorphisms.
Jewel Maria George +3 more
doaj +1 more source
How should children with West syndrome be efficiently and accurately investigated? Results from the National Infantile Spasms Consortium [PDF]
, 2015 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/111205/1/epi12951 ...
Allen +15 more
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