Results 71 to 80 of about 51,683 (162)
Developmental pathways to autism in tuberous sclerosis complex: Evidence from a longitudinal cohort
Epilepsia, EarlyView.Abstract The association between autism spectrum disorder (hereafter referred to as autism) and tuberous sclerosis complex (TSC) is well established, yet the developmental pathways linking genetic mutation, cortical pathology, and epilepsy with autism remain unclear. The Tuberous Sclerosis 2000 Study recruited children newly diagnosed with TSC (N = 125)
Fiona S. McEwen +12 more
wiley +1 more source
Oral findings in West syndrome – A Case Report
Brazilian Dental Science, 2017 West syndrome is a severe form of epilepsy syndrome which is characterized by triad of infantile spasms, EEG findings (hypsarrhythmia) and developmental delay.
Sheetal Dilip Badnaware +3 more
doaj +1 more source
Risk Factors Associated with Infantile Spasms: A Hospital-Based Case- Control Study in Taiwan
, 2009 We investigated the risk factors associated with infantile spasms (IS) by a hospital-based case-control study in Taiwan . Twenty-five patients with IS were recruited from one medical center (National Taiwan University Hospital) between 1990 and 1997 ...
LIOU, HORNG-HUEI;OON, PEI-CHING;LIN, HAUNG-CHI;WANG, PEN-JUNG;CHEN, TONY HSIU-HSI +1 more
core
Abnormal KCC2 expression and function in a mouse model of epilepsy and tuberous sclerosis complex
Epilepsia, EarlyView.Abstract Objective Drug‐resistant epilepsy is a common, severe manifestation of the genetic disorder tuberous sclerosis complex (TSC). Although significant mechanistic and therapeutic advances have been made in TSC, treatments for seizures remain largely ineffective.
Dongjun Guo +4 more
wiley +1 more source
Chinese Journal of Contemporary Neurology and Neurosurgery, 2012 Objective To explore the possible correlation between the genetic variations of the melanocortin receptors (MCRs, including MC2R, MC3R and MC4R) and adrenocorticotropic hormone (ACTH) responsiveness in patients with infantile spasms, and to investigate ...
Xiu⁃yu SHI +4 more
doaj
, 1990 The rationale, dosage, and side effects of ACTH treatment of infantile spasms are reviewed from the Department of Neurology, University of Southern California School of Medicine, and Children’s Hospital of Los Angeles ...
J Gordon Millichap
core +1 more source
Epilepsia, EarlyView.Abstract Objective A significant proportion of individuals with suspected genetic developmental and epileptic encephalopathies (DEEs) remain unsolved following whole genome sequencing (WGS). Here we describe biallelic RNU2‐2 variants causing a recently reported, severe, recessive DEE.
Olivia J. Henry +23 more
wiley +1 more source
Vigabatrin for Infantile Spasms
, 1999 The efficacy of vigabatrin (VGB) as the first, and adrenocorticotropin hormone (ACTH) or valproate (VPA) as the second, treatment of choice for newly diagnosed infantile spasms was evaluated in 42 infants treated at the University of Helsinki ...
J Gordon Millichap
core +1 more source
Current Issues in Molecular BiologyWe profiled the gene expressions in the hypothalamic paraventricular nuclei of 12 male and 12 female pups from a standard rat model of infantile spasms to determine the sex dichotomy of the neurotransmission genomic fabrics.
Dumitru Andrei Iacobas +6 more
doaj +1 more source
Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley +1 more source