Epileptic Spasms in Congenital Disorders of Glycosylation [PDF]
, 2017 Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and ...
Bahi-Buisson, N +7 more
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X-Linked Mental Retardation and Epilepsy Syndrome
Pediatric Neurology Briefs, 2002 A kindred of 7 affected male infants with an X-linked mental retardation and epilepsy syndrome (XMRE), distinct from X-linked West and other mental retardation-epilepsy syndromes, is reported from the University of Michigan, Ann Arbor, MI.
J Gordon Millichap
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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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Treatment of infantile spasms: emerging insights from clinical and basic science perspectives. [PDF]
, 2011 Infantile spasms is an epileptic encephalopathy of early infancy with specific clinical and electroencephalographic (EEG) features, limited treatment options, and a poor prognosis.
Arnason, Barry GW +10 more
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Epileptic spasms - 175 years on: Trying to teach an old dog new tricks [PDF]
, 2017 PURPOSE: This text provides an overview of how the condition "infantile spasms" has evolved in the last 175 years. METHOD: Key references are summarised to assimilate this review.
Ibekwe, RC +2 more
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Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms
Children, 2020 Infantile spasms (IS) is an epileptic encephalopathy with unique clinical and electrographic features, which affects children in the middle of the first year of life. The pathophysiology of IS remains incompletely understood, despite the heterogeneity of
Remi Janicot +2 more
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Clinical profile of vigabatrin as monotherapy for treatment of infantile spasms [PDF]
, 2010 Jason T Lerner1, Noriko Salamon2, Raman Sankar1,31Departments of Pediatrics, 2Radiological Sciences, 3Neurology, David Geffen School of Medicine, University of California Los Angeles and Mattel Children’s Hospital at UCLA, Los Angeles, CA ...
Jason T Lerner +2 more
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Interpretation of electroencephalography in infants
Эпилепсия и пароксизмальные состояния, 2020 Aim: Based on published reports and our own observations, we aimed to assign the graphical elements of EEG into normal and abnormal groups and then identify up to five main graphic elements in each group to facilitate visual analysis and interpretation ...
A. G. Koshchavtsev, S. V. Grechanyi
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Clinical Features and Treatment Efficacy in Mutation-Related Epileptic Encephalopathy in the Infant [PDF]
Annals of Child Neurology, 2019 Purpose Mutations in the cyclin-dependent kinase-like 5 (CDKL5) gene are associated with epileptic encephalopathy and severe cognitive impairment. We aim to characterize the association between this gene and treatment efficacy. Methods We retrospectively
Chung Mo Koo +6 more
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ACTH Efficacy in Symptomatic Infantile Spasms
Pediatric Neurology Briefs, 1994 A retrospective evaluation of 26 case records of patients with diagnoses of symptomatic infantile spasms and classic hypsarrhythmia is reported from the Division of Pediatric Neurology, University of Minnesota Medical School, Minneapolis, MN.
J Gordon Millichap
doaj +1 more source