User profiles for "author:Allan Bayat"
Allan BayatDanish Epilepsy Center, Department of Pharmachology and Drug design at University of … Verified email at filadelfia.dk Cited by 1508 |
[HTML][HTML] Epilepsy syndromes in the first year of life and usefulness of genetic testing for precision therapy
The high pace of gene discovery has resulted in thrilling advances in the field of epilepsy
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …
genetics. Clinical testing with comprehensive gene panels, exomes, or genomes are now …
[PDF][PDF] Nitrous oxide provides safe and effective analgesia for minor paediatric procedures--a systematic review.
RS Pedersen, A Bayat, NP Steen, ML Jacobsson - children, 2013 - content.ugeskriftet.dk
CONCLUSION: Nitrous oxide is a safe and effective method to achieve analgesia and
sedation during minor, but painful procedures. It can be safely administered by a dedicated …
sedation during minor, but painful procedures. It can be safely administered by a dedicated …
Lessons learned from 40 novel PIGA patients and a review of the literature
Objective To define the phenotypic spectrum of phosphatidylinositol glycan class A protein
(PIGA)‐related congenital disorder of glycosylation (PIGA‐CDG) and evaluate genotype …
(PIGA)‐related congenital disorder of glycosylation (PIGA‐CDG) and evaluate genotype …
The incidence of SCN1A‐related Dravet syndrome in Denmark is 1:22,000: A population‐based study from 2004 to 2009
Dravet syndrome is a severe infantile‐onset epileptic encephalopathy associated with
mutations in the sodium channel alpha‐1 subunit gene SCN 1A. We aimed to describe the …
mutations in the sodium channel alpha‐1 subunit gene SCN 1A. We aimed to describe the …
[HTML][HTML] The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin–Siris syndrome
PJ van der Sluijs, S Jansen, SA Vergano… - Genetics in …, 2019 - nature.com
Purpose Pathogenic variants in ARID1B are one of the most frequent causes of intellectual
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
disability (ID) as determined by large-scale exome sequencing studies. Most studies …
Neurodevelopmental disorders caused by de novo variants in KCNB1 genotypes and phenotypes
CGF De Kovel, S Syrbe, EH Brilstra, N Verbeek… - JAMA …, 2017 - jamanetwork.com
Importance Knowing the range of symptoms seen in patients with a missense or loss-of-
function variant inKCNB1and how these symptoms correlate with the type of variant will help …
function variant inKCNB1and how these symptoms correlate with the type of variant will help …
[HTML][HTML] PEDIA: prioritization of exome data by image analysis
Purpose Phenotype information is crucial for the interpretation of genomic variants. So far it
has only been accessible for bioinformatics workflows after encoding into clinical terms by …
has only been accessible for bioinformatics workflows after encoding into clinical terms by …
[HTML][HTML] Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a
group of phenotypically overlapping recessive syndromes with intellectual disability, for …
group of phenotypically overlapping recessive syndromes with intellectual disability, for …
[HTML][HTML] Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care
Purpose Mowat–Wilson syndrome (MWS) is a rare intellectual disability/multiple congenital
anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally …
anomalies syndrome caused by heterozygous mutation of the ZEB2 gene. It is generally …
[HTML][HTML] KCNQ2 R144 variants cause neurodevelopmental disability with language impairment and autistic features without neonatal seizures through a gain-of …
F Miceli, C Millevert, MV Soldovieri, I Mosca… - …, 2022 - thelancet.com
Background Prior studies have revealed remarkable phenotypic heterogeneity in KCNQ2-
related disorders, correlated with effects on biophysical features of heterologously …
related disorders, correlated with effects on biophysical features of heterologously …