GLUT1 deficiency syndrome (GLUT1DS) is understood as a monogenetic disease caused by
heterozygous SLC2A1 gene mutations with autosomaldominant and sporadic transmission…

Objective: Fever is the most common cause of convulsions, in infancy and childhood.
Parents usually are concerned by the risk of recurrence. Our aim is to determine this risk of …

The two genetically similar severe acute respiratory syndrome coronaviruses, SARS-CoV-1
and SARS-CoV-2, have each been responsible for global epidemics of vastly different scales…

… Author links open overlay panel Alice Abdel Aleem a b , Mahmoud F. Elsaid c 1 , Nader
Chalhoub b 1 , Almahdi Chakroun b 1 , Khalid AS Mohamed c , Rana AlShami c , Omer Kuzu b , …

We report the results of a study carried out to delineate genetic and epidemiological aspects
of homocystinuria in the Qatari population. Sixty‐four patients with homocystinuria (37 males…

… Partlow d e f , Muna Al Saffar d e h , Mahmoud F. Elsaid b , Nada Alaaraj c , A. James … an
F) axial, G) coronal and H) sagittal brain MRI of a control at 5 years of age (scale bars = 2 cm). …

Objectives The aim of this study is to determine the prevalence rate and impact of headache
in school children on school attendance with particular attention to migraine. Methods A …

Intracranial calcification (ICC) and polymicrogyria (PMG) phenotypes occur in a large and
heterogeneous group of neurological disorders with diverse etiologies [Rajab et al., 2009; …

Background Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of
neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished …

Background With diminishing costs of next generation sequencing (NGS), whole genome
analysis becomes a standard tool for identifying genetic causes of inherited diseases. …