Molecular and Clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan Syndrome in a Novel Patient Cohort.

O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.

Risk of adverse events after Omicron XBB-adapted BNT162b2 COVID-19 vaccination in the United States.

Background: Limited data exists regarding the safety of the COVID-19 2023-2024 vaccine formulations and whether the safety profiles differ from the original formulations. We evaluated the association between the BNT162b2 XBB COVID-19 vaccine and the risk of 20 pre-specified adverse events of special interest (AESIs).

Methods: We identified commercially-insured individuals in the US age ≥ 6 months who received the BNT162b2 XBB COVID-19 vaccine between September 11, 2023 and January 15, 2024 within the Optum pre-adjudicated database.

Favorable outcomes and FDG-PET changes following tocilizumab treatment for febrile infection-related epilepsy syndrome in a child.

Febrile Infection-Related Epilepsy Syndrome (FIRES) is an infrequent yet severe form of epilepsy that rapidly evolves into status epilepticus following a febrile episode. Prompt diagnosis coupled with effective treatment strategies is critical for improving patient outcomes. Herein, we describe the case of an 11-year-old male with FIRES who was successfully treated with tocilizumab, resulting in no further seizures or residual disability.

Raphe and ventrolateral medulla proteomics in sudden unexplained death in childhood with febrile seizure history.

Sudden unexplained death in childhood (SUDC) is death of a child ≥ 12 months old that is unexplained after autopsy and detailed analyses. Among SUDC cases, ~ 30% have febrile seizure (FS) history, versus 2-5% in the general population. SUDC cases share features with sudden unexpected death in epilepsy (SUDEP) and sudden infant death syndrome (SIDS), in which brainstem autonomic dysfunction is implicated.

Two Novel Variants in the and Genes in Italian Patients with Febrile Seizures.

Background: Febrile seizures (FSs) are the most common form of epilepsy in children aged between six months and five years. The exact cause is unknown, but several studies have demonstrated the importance of genetic predisposition, with increasing involvement of receptors and ion channels. The present study aims to identify novel pathogenic variants in Italian patients with FSs.

Animal Models of Febrile Seizures: Limitations and Recent Advances in the Field.

Febrile seizures (FSs) are defined as seizures occurring in children aged 6 months to 5 years with a background of elevated body temperature. It is one of the most common neurological disorders of childhood, emphasizing the importance of understanding the causes of FSs and their impact on the developing nervous system. However, there are significant limitations to the technologies currently available for studying the etiology and pathophysiology of seizures in humans.

Scrub Typhus Meningoencephalitis Presenting as Generalized Convulsive Status Epilepticus with Basal Ganglia and Extra-limbic Cortical Involvement, Complicated by Cortical Multifocal Myoclonus.

Background: Scrub typhus is an acute febrile infectious disease highly prevalent in the Asia Pacific region, often referred to as the "tsutsugamushi triangle." This mite-borne rickettsial zoonosis is caused by , an intracellular Gram-negative organism that primarily targets endothelial cells. The resulting vasculitis leads to multisystem involvement.

Identification of Reliable Reference Genes for Use in Gene Expression Studies in Rat Febrile Seizure Model.

The study of the pathogenesis of febrile seizures and their consequences frequently necessitates gene expression analysis. The primary methodology employed for such analysis is reverse transcription with quantitative polymerase chain reaction (RT-qPCR). To ensure the accuracy of data obtained by RT-qPCR, it is crucial to utilize stably expressed reference genes.