Genetics of Pediatric Epilepsy
As the genetic etiologies of an expanding number of epilepsy syndromes are revealed, the complexity of the phenotype genotype correlation increases. As our review will show, multiple gene mutations cause…
Autoimmune Encephalopathies
Antibody-mediated diseases of the central nervous system are a relatively new and challenging field in autoimmune neurologic disease and of major clinical importance in children and adults. The antibodies bind…
Advances in Tourette Syndrome
Tourette syndrome (TS) is a childhood-onset neurodevelopmental disorder characterized by multiple motor tics and at least one vocal or phonic tic, and often one or more comorbid psychiatric disorders. Premonitory…
Emerging Treatments for Pediatric Leukodystrophies
The leukodystrophies are a heterogeneous group of inherited disorders with broad clinical manifestations and variable pathologic mechanisms. Improved diagnostic methods have allowed identification of the underlying cause of these diseases,…
Tuberous Sclerosis Complex
Tuberous sclerosis complex is an autosomal-dominant, neurocutaneous, multisystem disorder characterized by cellular hyperplasia and tissue dysplasia. The genetic cause is mutations in the TSC1 gene , found on chromosome 9q34,…
Comparative Analysis of Self-Injury in People with Psychopathology or Neurodevelopmental Disorders
Self-injury is a complex and poorly understood behavior observed in people with psychopathology or neurodevelopmental disorders (NDD). Despite the differences in etiology and progression of these distinct disease domains, it…
Diagnosis and Management of Autism Spectrum Disorder in the Era of Genomics
Although the diagnosis of autism spectrum disorder (ASD) is based on behavioral signs and symptoms, the evaluation of a child with ASD has become increasingly focused on the identification of…
Prader-Willi, Angelman, and 15q11-q13 Duplication Syndromes
Three distinct neurodevelopmental disorders arise primarily from deletions or duplications that occur at the 15q11-q13 locus: Prader-Willi syndrome, Angelman syndrome, and 15q11-q13 duplication syndrome. Each of these disorders results from…
Genomic Variants and Variations in Malformations of Cortical Development
Malformations of cortical development (MCDs) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Several causative genes…
Pediatric Neurology in the Era of Genomics
Gyula Acsadi, MD, PhD, Editor “Our knowledge of the pathological substratum of the various forms of mental derangement is still very imperfect. In the majority of cases, there may be…
