Results 71 to 80 of about 338,913 (237)
Epileptic Disorders, EarlyView.Abstract Objective Developmental and epileptic encephalopathies (DEEs) are characterized by refractory seizures and frequently recurring epileptic activity with neurodevelopmental delay or regression that usually begin in early life. We aimed to define the relationship between electroclinical features and etiology, as well as the genotype–phenotype ...
Burcu Yaman +7 more
wiley +1 more source
Evaluation of neonatal hypotonia [Hipotonik yenido?anin de?erlendirilmesi]
, 2007 Hypotonia is one of the most important neurologic findings in neonatal period. The condition is usually evident at birth or is identified during early life as poor muscle tone results in an inability to maintain normal posture during movement and rest ...
Aydin K.
core
, 2010 The authors describe a 5-year-old girl with a neurological phenotype of 22q13 deletion syndrome (neonatal and persisting hypotonia, developmental delay, absence of language, decreased perception of pain) and minor dysmorphisms.
Leonarda Gennaro +3 more
core +1 more source
, 2020 Purpose To provide the insight for postoperative hypotonia. Selective posterior rhizotomy (SPR) has been proved as a powerful tool for reducing spasticity. And also, its functional benefit and long-term effect are also well-known.
김동석, 심규원, 박은경
core +1 more source
The effect of intrapartum maternal fever on neonatal outcomes: a systematic review and meta-analysis
Frontiers in PediatricsObjectiveTo systematically review the link between intrapartum maternal fever and adverse neonatal outcomes in term singleton pregnancies not complicated by chorioamnionitis.MethodsThe PubMed, Web of Science, Scopus, and Embase databases were searched ...
Qian Ling, Haixia Wan
doaj +1 more source
Prader–Willi syndrome: A syndromic cause of morbid obesity
Journal of Marine Medical Society, 2018 Prader–Willi syndrome (PWS) is a complex multisystem genetic disorder with a prevalence of about 1/10,000–1/30,000. It is also the first known disorder of human genomic imprinting.
Ankur Rawat +3 more
doaj +1 more source
KBG syndrome: A scoping review of electroclinical features of patients with epilepsy
Epileptic Disorders, EarlyView.Abstract Background and Objectives KBG syndrome is a rare autosomal developmental disorder caused by pathogenic variants of the ANKRD11 gene. This scoping review aimed to explore all current literature data regarding clinical and electroencephalographic features of patients with KBG syndrome and epilepsy. Materials and Methods We conducted a literature
Stefania Kalampokini +6 more
wiley +1 more source
Prader-Willi Syndrome: Diagnostic Criteria
Pediatric Neurology Briefs, 1993 Diagnostic criteria for Prader-Willi syndrome (PWS), developed by consensus of seven clinicians in consultation with experts, are reported from the University of Washington, Seattle, and six additional centers.
J Gordon Millichap
doaj +1 more source
Hypotonia and Prader Willi syndrome in the neonatal period
Genetics in Medicine, 1999 Hypotonia is sometimes a diagnosis for which infants are referred for investigation in the neonatal period.. Hypotonia occurs in infants with different disorders: neuromuscular, metabolic and chromosomal disorders. Among chromosomal disorders, hypotonia is a differential diagnosis particularly in Down and Prader Willi syndromes.
D. Bérubé, R. Gagné
openaire +1 more source
Functional profiling of STXBP1 missense variants using a novel dual‐readout fluorometric assay
Epilepsia, EarlyView.Abstract Objective STXBP1‐related disorders (STXBP1‐RD) are among the most common genetic neurodevelopmental disorders, marked by early onset epilepsy, global developmental delay, and motor impairments. Many missense variants remain uncharacterized, limiting accurate variant interpretation and hindering development of precision therapies.
Elisa A. Waxman +11 more
wiley +1 more source