Factors Influencing the Response of Patients with Infantile Epileptic Spasms Syndrome to ACTH as Repeated First-Line Therapy.

Introduction: The treatment of infantile epileptic spasms syndrome (IESS) aims to achieve spasm control. Current first-line interventions include hormone therapy (adrenocorticotropic hormone [ACTH] and corticosteroids) and vigabatrin. Despite treatment, the response rate remains at around 40%, with some infants experiencing relapse after achieving initial spasm control.

Optimal lead time for treatment of infantile epileptic spasms syndrome-a secondary data analysis.

Background: Infantile epileptic spasms syndrome (IESS) is a common epileptic syndrome in infancy. Current first-line treatments include adrenocorticotropic hormone (ACTH), corticosteroids and vigabatrin, with early control of epileptic spasms potentially benefiting long-term outcomes, such as improved psychomotor development. Early treatment, which means the prompt use of first-line treatments, is crucial for achieving an initial response in IESS.

Exhaustive clinical examination of etiology and initial response to first-line treatment in 577 children with infantile epileptic spasm syndrome children: A 5-year retrospective observational study.

Objective: Employing whole-exome sequencing (WES) technology to investigate the etiology of infantile epileptic spasm syndrome (IESS), and determining whether different etiologies exhibit phenotypic variations, while elucidating the potential associated factors, might improve short-term responses to first-line treatment.

Methods: We retrospectively evaluated patients with IESS admitted for treatment between January 2018 and June 2023. Clinical phenotypic differences among etiological classifications and clinical manifestations were analyzed.

Case report: Genotype and phenotype of -related malformations of cortical development: a case report and literature review.

Background: Mutations in the dynein cytoplasmic 1 heavy chain 1 () gene are linked to malformations of cortical development (MCD), which may be accompanied by central nervous system (CNS) manifestations. Here, we present the case of a patient with MCD harboring a variant of and review the relevant literature to explore genotype-phenotype relationships.

Case Presentation: A girl having infantile spasms, was unsuccessfully administered multiple antiseizure medications and developed drug-resistant epilepsy.

Melatonin for an obese child with gene variant showing epilepsy and disordered sleep: A case report.

Background: Abnormalities in the () gene often lead to obesity, but are rarely associated with other conditions such as epilepsy and sleep disorder.

Case Summary: Here, we present a case of a male obese child with a heterozygous variant in (c.494G>A, p.

The Instigation of the Associations Between Melatonin, Circadian Genes, and Epileptic Spasms in Infant Rats.

Infantile spasm (IS) is one of the most common catastrophic epilepsy syndromes in infancy characterized by epileptic spasm. While adrenocorticotropic hormone (ACTH) is the first-line treatment for IS, it is evident that the seizures associated with IS exhibit a clear circadian rhythm; however, the precise mechanisms underlying such seizures remain unclear. Melatonin is an important amine hormone and is regulated by circadian rhythm.

Case-Control Study of the Effects of Gut Microbiota Composition on Neurotransmitter Metabolic Pathways in Children With Attention Deficit Hyperactivity Disorder.

Background: Attention-deficit/hyperactivity disorder (ADHD) is a neuropsychiatric condition that may be related to an imbalance of neural transmitters. The gut microbiota is the largest ecosystem in the human body, and the brain-gut axis theory proposes that the gut microbiome can affect brain function in multiple ways. The purpose of this study was to explore the gut microbiota in children with ADHD and assess the possible role of the gut microbiota in disease pathogenesis to open new avenues for ADHD treatment.

Cobb Syndrome Manifesting as Repetitive Seizures in a 10-Year-Old Girl: A Case Report and Literature Review.

Cutaneous vertebral medullary angiomatosis, also known as Cobb syndrome, is a rare segmental neurocutaneous syndrome. This syndrome is considered to be a non-hereditary congenital disease that is usually associated with arteriovenous malformations in the skin and spine. The clinical manifestations are complex because the lesions can involve the spine, spinal cord, skin, and even the viscera.