Results 41 to 50 of about 2,252 (179)

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

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

Rapid ictal transition of focal epilepsy to infantile spasms in neurofibromatosis type 1 captured with EEG

Epilepsy & Behavior Reports, 2020
We report a novel case of an infant with neurofibromatosis type 1 (NF1) who presented with new onset presumed focal impaired awareness seizures with motor onset followed by rapid progression to infantile spasms (IS). Electroencephalography (EEG) captured
Shital H. Patel, Robert P. Carson, Lori C. Jordan, Lindsay M. Pagano   +3 more
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

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

Expanding the Phenotype of CYFIP2‐Related Developmental Epileptic Encephalopathy: Case Report and Literature Review

Annals of the Child Neurology Society, EarlyView.
ABSTRACT Background Pathogenic CYFIP2 variants cause developmental and epileptic encephalopathy (DEE), characterized by early‐onset intractable epilepsy and developmental delay. The disease course has not been delineated. Codon Arg87 is a de novo mutational hotspot associated with a severe DEE phenotype via gain‐of‐function mechanisms. Currently, there
Michaela Squire, Jenna K. Lea, Zheng (Jane) Fan, Senyene E. Hunter   +3 more
wiley   +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

A practical guide to the updated seizure classification 2025

Epileptic Disorders, EarlyView.
Abstract This paper provides a practical guide to applying the updated seizure classification in clinical settings. The updated classification, published by the International League Against Epilepsy in 2025, builds on the operational classification introduced in 2017.
Sándor Beniczky, Eugen Trinka, Elaine Wirrell, Mamta Bhushan Singh, Hal Blumenfeld, Alicia Bogacz Fressola, Fernando Cendes, Dana Craiu, Birgit Frauscher, Floor E. Jansen, Philippe Kahane, Veena Kander, Nirmeen Kishk, Ching Soong Khoo, Angelica Lizcano, Luca De Palma, Philippe Ryvlin, Nicola Specchio, Michael R. Sperling, William Tatum, Elza Márcia Yacubian, Jo Wilmshurst, J. Helen Cross   +22 more
wiley   +1 more source