Migraine equivalents of infancy, childhood, and adolescence are recognized periodic,
paroxysmal syndromes without associated headache that are thought to be migrainous in etiology…

Background Biotin-responsive basal ganglia disease (BBGD) is an autosomal recessive
neurometabolic disorder. It is characterized by sub acute encephalopathy with confusion, …

Objectives: The aim of this study is to assess the efficacy and side effects of melatonin use
in a population of children with neurodevelopmental disabilities who had sleep disorders. …

We report our results of 1000 diagnostic WES cases based on 2819 sequenced samples from
54 countries with a wide phenotypic spectrum. Clinical information given by the requesting …

Objective: To increase the use of evidence-based approaches in the diagnosis, investigations
and treatment of Convulsive Status Epilepticus (CSE) in children in relevant care settings. …

The objective of this study was to compare the clinical and electrographic features of two
groups of children with benign epilepsy of childhood with rolandic spikes: those in whom …

Purpose Whole-exome sequencing (WES) can help identify known and novel pathogenic
molecular aberrations. Here, we examined the diagnostic yield of WES in population from …

Objectives: To establish the normal Creatine phosphokinase (CPK) range in newborns of all
3 modes of delivery and prove that high CPK level in neonates is not specific a indicator for …

Background Aicardi-Goutières syndrome is a rare genetic neurological disorder with variable
clinical manifestations. Molecular detection of specific mutations is required to confirm the …

Iron-Sulfur Cluster (ISC) biogenesis is a vital cellular process required to produce various
ISC-containing proteins. These ISC proteins are responsible for essential functions such as …