Results 71 to 80 of about 639,655 (303)
Ictal SPECT Focal Hyperperfusion in West Syndrome
Pediatric Neurology Briefs, 2007 Ictal single photon emission computed tomography (SPECT) and EEG were used to determine the mechanism of clustered spasms in 3 patients with symptomatic West syndrome (WS), in a study at Tokushima University, Japan.
J Gordon Millichap
doaj +1 more source
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
, 2010 Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
American Journal of Hematology, EarlyView.ABSTRACT Sutimlimab is a monoclonal antibody against complement fraction C1s approved for the treatment of hemolytic anemia due to cold agglutinin disease (CAD). Here, we analyzed and report the largest international CAD cohort of sutimlimab‐treated patients ever reported to highlight its safety and effectiveness in the real‐world setting. We accrued a
Bruno Fattizzo +38 more
wiley +1 more source
Prolonged EEG Depression as a Predictor of West Syndrome in Term Infants with HIE
Pediatric Neurology Briefs, 2011 Seventeen term and near-term infants with hypoxic ischemic encephalopathy (HIE) were studied at Okazaki City Hospital and other centers in Japan to clarify the relationship between prolonged depression of the EEG and later development of West syndrome ...
J Gordon Millichap
doaj +1 more source
The 9th International RASopathies Symposium
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The RASopathies are a group of congenital disorders with overlapping clinical manifestations that are caused by pathogenic germline or early somatic variants that result in the hyperactivation of the RAS/mitogen‐activated protein kinase (MAPK) signaling pathway.
Pau Castel +41 more
wiley +1 more source
A Novel PAFAH1B1 Splicing Variant Identified in a Patient with Classical Lissencephaly
Tokyo Women's Medical University Journal, 2020 Lissencephaly is a severe brain malformation associated with abnormal formation of cerebral sulci. Until now, many genes related to lissencephaly have been identified.
Tomoe Yanagishita +5 more
doaj +1 more source
The 50 years experience of adrenocorticotropic hormone (ACTH) use in West Syndrome: literatura review and UNIFESP protocol [PDF]
, 2008 INTRODUÇÃO: A eficácia do ACTH no tratamento da Síndrome de West (SW) é extensivamente debatida na literatura, o mesmo ocorrendo em relação às doses, efeitos colaterais e protocolos de utilização.
GARZON, Eliana +2 more
core +2 more sources
Unraveling a Diagnostic Enigma: A TECPR2 Case Solved Through Multi‐Omic Genomics
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT TECPR2 is a key regulator of autophagy, encoded by the TECPR2 gene. Pathogenic variants in this gene have been linked to a rare hereditary sensory and autonomic neuropathy with intellectual disability (HSAN9). We report a teenage female with a syndromic intellectual disability disorder associated with neuromuscular abnormalities.
Teresa Zhao +122 more
wiley +1 more source
Frontiers in Psychology, 2018 HighlightsThe kinematics of hand movements (spatial use, curvature, acceleration, and velocity) of infants with their mothers in an interactive setting are significantly associated with age in cohorts of typical and at-risk infantsdiffer significantly at
Lisa Ouss +15 more
doaj +1 more source
Short-term memory and vocabulary development in children with Down syndrome and children with specific language impairment [PDF]
, 2005 A longitudinal comparison was made between development of verbal and visuo-spatial short-term memory and vocabulary in children with Down syndrome (DS), children with specific language impairment (SLI), and typically developing children as a control ...
Botting, N. +2 more
core +1 more source