Results 1 to 10 of about 1,560,616 (133)

Epileptic spasms in infants: can video-EEG reveal the disease’s etiology? A retrospective study and literature review [PDF]

Frontiers in Neurology, 2023
ObjectiveEpileptic spasms are a type of seizure defined as a sudden flexion or extension predominantly of axial and/or truncal limb muscles that occur with a noticeable periodicity. Routine electroencephalogram supports the diagnosis of epileptic spasms,
Raffaele Falsaperla, Raffaele Falsaperla, Sarah Sciuto, Grete Francesca Privitera, Lucia Giovanna Tardino, Giuseppe Costanza, Alessandra Di Nora, Roberto Horacio Caraballo, Martino Ruggieri   +8 more
doaj   +2 more sources

The Enigma of West Syndrome: A Case of Infantile Spasms Without Genetic Clues [PDF]

Case Reports in Pediatrics
West syndrome is a distinctive type of epilepsy characterized by infantile spasms, hypsarrhythmia on EEG, and developmental regression. It affects children between 4 months and 2 years old, with an incidence of 2–3.5 per 10,000 births, being more common ...
Ali Raafat Ammar, Alyaa Al Ramah, Jahnavi Bodi, Nuha AlZaabi, Malay Jhancy   +4 more
doaj   +2 more sources

Inter-rater reliability and clinical utility of the BASED score in infantile epileptic spasms syndrome. [PDF]

Epileptic Disord
Abstract Objective Hypsarrhythmia is the classical EEG pattern of children with infantile epileptic spasms syndrome (IESS). Multifocal spikes, slow waves of large amplitude, and chaoticity are its main characteristics, but these lack clear definitions, and the interrater reliability (IRR) is poor.
Cramer TP, Johnsen B, Hansen VS, Qerama E, Engedal TS.   +4 more
europepmc   +2 more sources

Mean global field power is reduced in infantile epileptic spasms syndrome after response to vigabatrin [PDF]

Frontiers in Neurology
PurposeInfantile epileptic spasms syndrome (IESS) is associated with abnormal neuronal networks during a critical period of synaptogenesis and brain plasticity. Hypsarrhythmia is a visual EEG biomarker used to diagnose IESS, assess response to treatment,
Arjun Nair, Joycelyne Ewusie, Rowan Pentz, Robyn Whitney, Kevin Jones   +4 more
doaj   +2 more sources

Prenatal betamethasone-postnatal N-methyl-D-aspartic acid model of spasms: Update on mechanisms and treatments. [PDF]

Epilepsia Open
Abstract Infantile epilepsy spasms syndrome (IESS), formerly known as infantile spasms or West Syndrome, is a severe epilepsy syndrome affecting about 3 in 10,000 newborns in the United States. Characterized by clusters of epileptic spasms, interictal hypsarrhythmia, and developmental delays, IESS has diverse causes, including structural‐metabolic ...
Vieira K, Schonwald A, Chern CR, Shah K, Velíšková J, Velíšek L.   +5 more
europepmc   +2 more sources

New insights into epileptic spasm generation and treatment from the TTX animal model. [PDF]

Epilepsia Open
Abstract Currently, we have an incomplete understanding of the mechanisms underlying infantile epileptic spasms syndrome (IESS). However, over the past decade, significant efforts have been made to develop IESS animal models to provide much‐needed mechanistic information for therapy development.
Swann JW, Ballester-Rosado CJ, Lee CH.
europepmc   +2 more sources

Ketogenic diet for infantile epileptic spasms. [PDF]

Epilepsia Open
Abstract Approximately half of all cases of Infantile Epileptic Spasms Syndrome (IESS) do not respond to vigabatrin and hormonal therapies. There is no clear consensus as to the second‐line therapy for IESS. Ketogenic diet (KD) has emerged as an effective treatment for certain drug‐resistant epilepsies and in many cases of IESS.
Scantlebury MH, Choudhary A, Ng AC, Gavrilovici C.   +3 more
europepmc   +2 more sources

STXBP1 Variants Associated With Epilepsy With Variable Severity. [PDF]

CNS Neurosci Ther
STXBP1‐related disorders range from mild epilepsy to DEE, and severity aligns with impact on structure and Munc18‐1 abundance. Noncore inherited variants are stable with preserved Munc18‐1 and a favorable prognosis, whereas de novo core variants reduce Munc18‐1, causing severe seizures, neurodevelopmental deficits, and poorer outcomes.
Xu M, Guo X, Wang ZK, Qi Y, Ye TT, Xu J, Deng WW, Zhuang MZ, Shi YW, Xiong F, Liu XR, China Epilepsy Gene 1.0 Project.   +11 more
europepmc   +2 more sources

Burst suppression pattern on EEG in West syndrome in an infant with heterozygous variant in the CACNA1A gene

Annals of Medical Science and Research, 2023
West syndrome is a severe epilepsy syndrome characterized by the classical triad of infantile spasms, hypsarrhythmia on electroencephalography (EEG) and psychomotor retardation.
Nikhil Gladson, Sheetal Sasikumar, Jiya Thankam Koshy   +2 more
doaj   +1 more source

De novo variants in MAST4 related to neurodevelopmental disorders with developmental delay and infantile spasms: Genotype-phenotype association

Frontiers in Molecular Neuroscience, 2023
ObjectiveThis study aims to prove that the de novo variants in MAST4 gene are associated with neurodevelopmental disorders (NDD) with developmental delay (DD) and infantile spasm (IS) and to determine the genotype-phenotype correlations.MethodsTrio-based
Xi Zhang, Neng Xiao, Yang Cao, Ying Peng, Aojie Lian, Aojie Lian, Yuanlu Chen, Pengchao Wang, Weiyue Gu, Bo Xiao, Jing Yu, Hua Wang, Li Shu, Li Shu   +13 more
doaj   +1 more source