Results 31 to 40 of about 1,560,616 (133)
The FEBS Journal, EarlyView.Human AIMP2 mutations lead to severe neurodevelopmental defects and brain atrophy. Using patient‐derived fibroblasts from two individuals, we show decreased AIMP2 protein levels and overall protein synthesis. In a zebrafish loss‐of‐function model, the lack of AIMP2 leads to an increase in cell death and results in smaller brains.
Patrick Mullen +10 more
wiley +1 more source
Characteristics of EEG-based Brain Connectivity in Infantile Spasms Patients with Hypsarrhythmia [PDF]
, 2015 An infantile spasms syndrome is a subset of epileptic syndrome occurring in children less than two years old. Approximately two-thirds of these patients have hypsarrhythmia, whose EEG patterns display large amplitudes, multifocal sharp waves, and ...
Bajaj, Vaibhav
core
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, Volume 13, Issue 9, Page 1759-1771, September 2026.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Infantile Spasms, Hypsarrhythmia, and Adrenoleukodystrophy (ALD)
, 1988 An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from ...
J Gordon Millichap
core +1 more source
Single-Epileptic Spasms with or without Hypsarrhythmia: A Study of 16 Patients
, 2017 Objective We evaluated the electroclinical features, etiology, treatment, and outcome of 16 patients with single-epileptic spasms (ESs) with or without hypsarrhythmia (WoH). Methods Nine boys and seven girls had single-ESs.
Roberto Caraballo +6 more
core +2 more sources
Unveiling sleep disturbances in KCNB1‐related disorders: Insights from a cohort of 78 individuals
Epilepsia Open, Volume 11, Issue 4, Page 1159-1170, August 2026.Abstract Objectives Sleep disturbances are frequent comorbidities in epilepsies and developmental encephalopathies. This study aimed to characterize sleep abnormalities in individuals with KCNB1‐related disorders, focusing on their prevalence, clinical manifestations, and impact on daily functioning.
Giovanna Scorrano +4 more
wiley +1 more source
The significance of focal pattern in hypsarrhythmia
Introduction: Infantile Epileptic Spasms Syndrome (IESS) presents a therapeutic challenge and is frequently associated with developmental delay. It is characterized by seizures and hypsarrhythmia on the EEG and has multiple etiologies that influence ...
Gudrun Gröppel +2 more
core +1 more source
Epilepsia Open, Volume 11, Issue 4, Page 1263-1275, August 2026.Abstract Objective Lennox–Gastaut syndrome (LGS) is a drug‐resistant developmental and epileptic encephalopathy (DEE). Preclinical drug development for LGS is constrained by a lack of syndrome‐relevant animal models. We aimed to evaluate a Gabrb3+/D120N knock‐in (KI) mouse model of LGS by quantifying atypical absence seizures and epileptic spasms and ...
Thomas Harman +5 more
wiley +1 more source
Connectivity Analysis of Hypsarrhythmia-EEG for Infants With West Syndrome
Detection of hypsarrhythmia electroencephalography (EEG) in infants with West syndrome (WS) is currently performed by manual inspection of long-term video/EEG recording, producing low inter-rater reliability.
Qiongru Guo +10 more
core +1 more source
, 1985 In view of the therapeutic efficacy of adrenocorticotropic hormone (ACTH) in the treatment of infantile spasms (IS) with hypsarrhythmia, we studied the cerebrospinal fluid (CSF) levels of ACTH in 15 children (4-10 months) affected by IS with ...
Galli V +23 more
core +1 more source