Results 81 to 90 of about 59,645 (241)
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
Epilepsia, EarlyView.Abstract Objective SCN2A pathogenic mutations, such as the recurrent heterozygous Nav1.2‐L1342P, are monogenic causes of epilepsy. In this human‐induced pluripotent stem cell–derived model system, we aim to investigate the molecular and cellular mechanisms underlying SCN2A‐L1342P‐associated pathology. Methods Using a human male induced pluripotent stem
Maria I. Olivero‐Acosta +26 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
Epilepsia, EarlyView.Abstract Objective Lennox–Gastaut syndrome (LGS) is a developmental and epileptic encephalopathy defined by polymorphic seizures, intellectual disability (ID), and characteristic electroencephalographic (EEG) patterns. The applicability and biological validity of current electroclinical criteria remain debated.
Emanuele Cerulli Irelli +12 more
wiley +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
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
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
BRAIN TUMORS AND INFANTILE SPASMS
, 1995 Two patients, aged 6 and 7 months, with brain tumors who presented with infantile spasms and hypsarrhythmia are reported from Sapporo and Asahikawa Medical Universities ...
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
Infantile Spasms in Children with Down Syndrome [PDF]
, 2011 Down syndrome (DS) is the most common genetic cause of mental retardation. It is estimated that 5–13% of persons affected by DS have seizures. Infantile spasms are the most common type of seizures and usually are well controlled with steroids and ...
Lucija Lujić +9 more
core +1 more source