abstract objective the last two decades have seen major advancements in our understanding of some of the most common neurodevelopmental disorders in the field of child neurology. however, in the majority of individual patients, it is still not possible to arrive at a molecular diagnosis, due in part to lack of knowledge of molecular causes of these tremendously complex conditions. common geneti...

Zebrafish are a unique cell to behavior model for studying the basic biology of human inherited neurological conditions. Conserved vertebrate genetics and optical transparency provide in vivo access to the developing nervous system as well as high-throughput approaches for drug screens. Here we review zebrafish modeling for two broad groups of inherited conditions that each share genetic and mo...

Friedrich’s ataxia (FRDA), a neurodevelopmental and progressive neurodegenerative disease, is the most common inherited form of ataxia. Omaveloxolone was approved by US Food Drugs Administration in early 2023, making it first treatment available to patients with FRDA. This approval made possible combining compelling cellular mechanism strong clinical evidence provided through MOXIe study, multi...

BACKGROUND Autism spectrum disorders (ASDs) represent a group of childhood neurodevelopmental disorders that affect 1 in 88 children in the US. Previous exome sequencing studies on family trios have implicated a role for rare, de-novo mutations in the pathogenesis of autism. METHODS To examine the utility of whole-genome sequencing to identify inherited disease candidate variants and genes, w...

BackgroundSCN2A mutations are some of the commonest causes neurodevelopmental disorders including epilepsy, movement disorders, autism spectrum disorder, intellectual disability and rarely episodic ataxia.Case reportWe present a patient with dominantly inherited SCN2A mutation presenting as ataxia in boy hemiplegia his father. We have briefly reviewed literature ataxia.ConclusionOur report has ...

Background: Barakat syndrome is a rare autosomal dominant disorder characterized by hypoparathyroidism, sensorineural deafness, and renal disease, collectively known as HDR syndrome. This disease is caused by the mutation of GATA3 gene located on chromosome 10p15. GATA3 is involved in the embryonic development of kidneys, inner ears, parathyroid glands, and central nervous systems.Case report: ...

In the past few years, there has been a veritable explosion in the discovery of "new" inborn errors of metabolism. These new conditions are involved in complex pathways of intermediary metabolism affecting processes heretofore unknown. The phenotypes of these new conditions are in many ways milder than the classically described metabolic disorders. Several of these conditions present as nonsynd...