User profiles for "author:Allan Bayat"

Allan Bayat

Danish 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

A Bayat, M Bayat, G Rubboli, RS Møller - Genes, 2021 - mdpi.com
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 …

[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 …

Lessons learned from 40 novel PIGA patients and a review of the literature

A Bayat, A Knaus, M Pendziwiat, A Afenjar… - …, 2020 - Wiley Online Library
Objective To define the phenotypic spectrum of phosphatidylinositol glycan class A protein
(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

A Bayat, H Hjalgrim, RS Møller - Epilepsia, 2015 - Wiley Online Library
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 …

[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 …

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 …

[HTML][HTML] PEDIA: prioritization of exome data by image analysis

TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar… - Genetics in …, 2019 - nature.com
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 …

[HTML][HTML] Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

A Knaus, JT Pantel, M Pendziwiat, N Hajjir, M Zhao… - Genome Medicine, 2018 - Springer
Abstract Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a
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

I Ivanovski, O Djuric, SG Caraffi, D Santodirocco… - Genetics in …, 2018 - nature.com
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 …

[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 …