Results 51 to 60 of about 3,560 (234)

EEG biomarkers for the diagnosis and treatment of infantile spasms

Frontiers in Neurology, 2022
Early diagnosis and treatment are critical for young children with infantile spasms (IS), as this maximizes the possibility of the best possible child-specific outcome.
Blanca Romero Milà, Blanca Romero Milà, Kavyakantha Remakanthakurup Sindhu, John R. Mytinger, Daniel W. Shrey, Daniel W. Shrey, Beth A. Lopour   +6 more
doaj   +1 more source

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, O'Callaghan, FJK, Wilmshurst, JM   +2 more
core   +1 more source

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, Se Hee Kim, Heung Dong Kim, Joon Soo Lee, Jong Rak Choi, Seung-Tae Lee, Hoon-Chul Kang   +6 more
doaj   +1 more source

Case Report: Rituximab Improved Epileptic Spasms and EEG Abnormalities in an Infant With West Syndrome and Anti-NMDAR Encephalitis Associated With APECED

Frontiers in Neurology, 2021
Background: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy is a rare autosomal recessive disorder caused by a mutation in the autoimmune regulator gene.
Go Kawano, Takaoki Yokochi, Ryuta Nishikomori, Yoriko Watanabe, Keizo Ohbu, Yukitoshi Takahashi, Haruo Shintaku, Toyojiro Matsuishi, Toyojiro Matsuishi, Toyojiro Matsuishi   +9 more
doaj   +1 more source

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

West Syndrome Remission Following Acute Viral Infection

Pediatric Neurology Briefs, 2011
Researchers at Nihon University School of Medicine, Tokyo, Japan, report 11 children with intractable epilepsy (West syndrome in 6 and myoclonic seizures in 5) who showed clinical and electrographic improvement following acute viral infection.
J Gordon Millichap
doaj   +1 more source

ACTH vs Vigabatrin in Infantile Spasms

Pediatric Neurology Briefs, 1999
The comparative efficacy and safety of ACTH (110 IU/m2 once daily for 15 days) and vigabatrin (100-150 mg/kg/daily in bid doses) was evaluated by a retrospective analysis of medical records of 42 infants (21 in each group) with infantile spasms and ...
J Gordon Millichap
doaj   +1 more source

Brain Magnetic Resonance Imaging Findings in Infantile Spasms

Neurology International, 2022
Background: Infantile spasms are an age-specific epileptic disorder. They occur in infancy and early childhood. They can be caused by multiple etiologies. Structural abnormalities represent an important cause of infantile spasms. Brain magnetic resonance
Osama Y. Muthaffar
doaj   +1 more source

An OGT Missense Variant With Impaired Enzyme Activity in a Child With Severe Developmental Delay and Hepatoblastoma

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT O‐GlcNAc transferase (OGT) and its antagonist O‐GlcNAcase (OGA) regulate protein O‐GlcNAcylation, a highly conserved post‐translational modification involved in metabolic sensing. Pathogenic variants in the OGT gene cause an X‐linked congenital disorder of glycosylation (OGT‐CDG) presenting developmental delay, hypotonia, intellectual ...
Alfonso Manuel D'Alessio, Huijie Yuan, Leandro Raul Soria, Sara Basse Hansen, Iolanda Boffa, Paola Arena, Benedetta Attianese, Maureen. O'Sullivan, Noelle Cullinan, Lewis Pang, Daan Marinus Ferdinand van Aalten, Nicola Brunetti‐Pierri, Sally Ann Lynch   +12 more
wiley   +1 more source

West Syndrome in an Infant with Complete Corpus Callosal Agenesis

Archives of Medicine and Health Sciences
West syndrome is a severe form of epilepsy with onset in infancy and early childhood. The characteristic triad described includes infantile spasms (IS), an abnormal electroencephalogram (EEG) pattern referred to as hypsarrhythmia, and developmental ...
S. Sheetal, Nikhil Gladson, Rakesh John, Yamuna P. Kurup   +3 more
doaj   +1 more source