Results 31 to 40 of about 2,252 (179)

WEST SYNDROME REVISITED

open access: yesЭпилепсия 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

Infantile spasms and developmental delay: A case of miller–Dieker syndrome

open access: yesIndian 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

X-Linked Mental Retardation and Epilepsy Syndrome

open access: yesPediatric 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
doaj   +1 more source

Epileptic Encephalopathies, CDKL5 Mutations, and Infantile Spasms

open access: yesPediatric Neurology Briefs, 2012
Researchers at the Mayo Clinic, Rochester, MN performed retrospective chart reviews of 6 children with epilepsy and CDKL5 mutations.
J Gordon Millichap
doaj   +1 more source

Interpretation of electroencephalography in infants

open access: yesЭпилепсия 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
doaj   +1 more source

Developmental Outcome of West Syndrome

open access: yesPediatric Neurology Briefs, 2007
Medical records of 32 patients with cryptogenic West syndrome were reviewed for factors correlating with developmental outcome in a study at Saitama Children’s Medical Center, and the Jikei University School of Medicine, Tokyo, Japan.
J Gordon Millichap
doaj   +1 more source

Infantile Spasms: An Update on Pre-Clinical Models and EEG Mechanisms

open access: yesChildren, 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
doaj   +1 more source

Clinical Features and Treatment Efficacy in Mutation-Related Epileptic Encephalopathy in the Infant [PDF]

open access: yesAnnals 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
doaj   +1 more source

ACTH Efficacy in Symptomatic Infantile Spasms

open access: yesPediatric 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

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