Clinical spectrum in multiple families with primary COQ deficiency.

Coenzyme Q COQ , an essential cofactor in the electron-transport chain is involved in ATP production. Primary COQ deficiency is clinically and genetically a heterogeneous group of mitochondrial disorders caused by defects in the COQ synthesis pathway. Its mode of inheritance is autosomal recessive and it is characterized by metabolic abnormalities and multisystem involvement including neurological features.

Brown-Vialetto-Van Laere syndrome and Fazio-Londe syndrome: A novel mutation and in silico analyses.

Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also reported. After clinical evaluations, SLC52A3 gene was sequenced and segregation analysis of the mutations was also checked.

Ictal Electroencephalographic Findings in Children with Migraine Headache.

Objectives: In this study, the EEG findings in children with migraine headache were assessed in Bahrami Hospital, Tehran, Iran from 2014 to 2016.

Materials & Methods: In this observational cross-sectional study, 71 consecutive children with migraine headache were enrolled. The EEG findings were determined and compared with other variables.