Identification of the genetic basis of pediatric neurogenetic disorders at a tertiary referral hospital in Indonesia: Contribution of whole exome sequencing.

Background: Neurogenetic disorders (NGDs) are complex Mendelian disorders that affect the neurological system. A molecular diagnosis will provide more information about pathophysiology, prognosis, and therapy, including future genetic therapy options. Whole-Exome Sequencing (WES) can rapidly discover the genetic basis in NGDs.

De novo mutation of the TSC2 gene in patient with Tuberous Sclerosis Complex-Associated Neuropsychiatric Disorders (TAND) Phenotype: a case report.

Unlabelled: Tuberous sclerosis complex (TSC) is a neurocutaneous disease caused by a mutation in the or gene. There are several neuropsychiatric manifestations associated with TSC known as TSC-associated neuropsychiatric disorder (TAND). This article concerns neuropsychiatric manifestations in children with the gene mutation, with genetic analysis findings using whole-exome sequencing.

Phenotypes of a female patient with novel de novo frameshift ARX variant identified by whole-exome sequencing: a case report.

Unlabelled: Variants in the () gene cause a diverse spectrum of phenotypes of neurodevelopmental disorders (NDD) in male patients. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting a novel de novo frameshift variant in the gene in a female patient with autism, seizure, and global developmental delay.

Case Presentation: A 2-year-old girl with frequent seizures, global developmental delay, and autistic features was referred to our hospital.

Neurological Manifestations of COVID-19 Associated Multisystem Inflammatory Syndrome in Children (MIS-C) in Yogyakarta, Indonesia.

Objective: This observational cohort study aims to provide data on pediatric patients with neurological manifestations associated with multisystem inflammatory syndrome in children (MIS-C) associated with coronavirus disease (Covid-19).

Methods: Patients aged <18 with neurologic symptoms and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection from January, 2021 to January, 2022 at the Dr. Sardjito Hospital in Yogyakarta, Indonesia were evaluated.

The role of whole exome sequencing in the UBE3A point mutation of Angelman Syndrome: A case report.

Introduction: Angelman Syndrome (AS) is a rare disorder with a relatively well-defined phenotype caused by lack of expression of the maternally inherited ubiquitin-protein ligase E3A () gene in the brain. This article describes the role of genetic testing using whole-exome sequencing (WES) in detecting rare AS variants, a point mutation in the UBE3A gene.

Case Presentation: We describe a rarely reported clinical presentation of AS in a two year and ten months old girl with severe developmental delay, movement and balance disorder, frequent smiling, apparent happy demeanor, speech impairment, absence of seizure, lack of sleep, and abnormal food-related behavior.