Results 171 to 180 of about 367,412 (367)
A survey on febrile seizures at the Lady Ridgeway Hospital for Children [PDF]
, 2009 Guwani Liyanage +2 more
openalex +1 more source
Clinical Genetics, EarlyView.To assess the relevance of exome sequencing as a first‐tier diagnostic tool, three aspects were investigated: detection of copy number variants (CNVs) from exomes as compared to chromosomal microarray, clinically‐relevant CNVs across all sizes, and additional diagnostic utilities (uniparental disomy and triploidy).
Rivka Birnbaum +13 more
wiley +1 more source
Clinical Genetics, EarlyView.Comprehensive clinical description of 12 subjects with pathogenic PRKAR1B variants, including two heterozygous deletions supporting haploinsufficiency as a possible mechanism of disease, providing valuable insight into the pathophysiology of MASNS and setting a framework upon which to design future mechanistic studies of PKA signaling in brain ...
Sebastian Burkart +17 more
wiley +1 more source
A placebo-controlled trial of folic acid and betaine in identical twins with Angelman syndrome. [PDF]
, 2019 BackgroundAngelman syndrome (AS) is a neurodevelopmental disorder that is caused by maternal genetic deficiency of a gene that encodes E6-AP ubiquitin-protein ligase (gene symbol UBE3A) mapping to chromosome 15q11-q13.
Anselm, Irina +8 more
core
Developmental Medicine &Child Neurology, EarlyView.This multicenter retrospective study evaluated the use of intravenous immunoglobulin (IVIG) in 14 children with Dravet syndrome as a preventive strategy against febrile status epilepticus. Over a 6‐month period, IVIG was associated with a significant reduction in hospitalizations for febrile status epilepticus.
Romane Marc +9 more
wiley +1 more source
Developmental Medicine &Child Neurology, EarlyView.Large Swiss cohort of paediatric status epilepticus demonstrates that treatment delay (> 60 min) directly contributes to morbidity. Machine‐learning analysis of routine clinical data identifies three distinct patient clusters: febrile status epilepticus, severe para‐infectious status epilepticus, and status epilepticus in children with known epilepsy ...
Richard J Burman +6 more
wiley +1 more source