A protein kinase domain, a Rhodanase-like and the Tre-2/Bub2/Cdc16 (TBC) domain are all encoded by TBCK gene. By modulating mammalian target of rapamycin (mTOR) signaling pathway, is hypothesized to play role in actin organization, cell growth, proliferation. Has organization cytoskeleton.

Background: Developmental and behavioral disorders are the most prevalent problems in children after infection and trauma. Growth and development are influenced by genetic, social and environmental factors that incept of the early life of the fetal and neonatal periods. Due to the importance of the development in children, this study was conducted to determine the relationship between growth in...

background: prematurity is the most common cause of death and disability and preterm infants, are prone to developmental complications. for this reason this study was designed for follow up of these babies until 2 years by modified ddst-2. methods: this study was a prospective longitudinal descriptive study from march 2009 to march 2011 in clinic of sheikh and imam reza hospitals, mashhad, iran...

how to cite this article: najafi r, hashemipour m, mostofizadeh n, ghazavi mr, nasiri j, shahsanai a, famori f, najafi f, moafi m. demographic and clinical findings in pediatric patients affected by organic acidemia. iran j child neurol. spring 2016; 10(2): 74-81. abstract objective metabolic disorders, which involve many different organs, can be ascribed to enzyme deficiency or dysfunction and...

how to cite this article: ashrafzadeh f, sadrnabavi a, akhondian j, beiraghi toosi m, mohammadi mh, hassanpour k. angelman syndrome: a case report. iran j child neurol. spring 2016; 10(2):86-89. abstract objective angelman syndrome (as) is a neurodevelopmental disorder presented by jerky movement, speech delay and cognitive disability epilepsy as well as dysmorphic features. it occurs due to an...

how to cite this article: momen aa. momen m. double cortex syndrome (subcortical band heterotopia); a case report. iran j child neurol. 2015;9(2):64-68. abstract objective approximately 5–10% of preschool age children are considered developmentally disabled. brain magnetic resonance imaging (mri) plays a key role in the diagnostic evaluation in these children. many congenital or acquired brain ...

Joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. We present two cases of this syndrome with different phenotypes. The first case was an 8-month-old girl with hypotonia, apnea, and mild developmental delay as well as retinal degeneration and unilateral renal cystic dysplasi...

how to cite this article: barzegar m, malaki m, sadegi-hokmabadi e. joubert syndrome with variable features: presentation of two cases. iran j child neurol. 2013  spring;7(2):43-46.   abstract joubert syndrome is a very rare disorder characterized by respiratory irregularities, nystagmus, hypotonia, and global developmental delay with abnormalities of cerebellum. we present two cases of this sy...