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http://dx.doi.org/10.1016/j.braindev.2016.11.008 | DOI Listing |
JCI Insight
September 2025
Department of Physiology and Neurobiology, University of Connecticut, Storrs, United States of America.
Dravet syndrome (DS) is an early-onset epilepsy caused by loss of function mutations in the SCN1A gene, which encodes Nav1.1 channels that preferentially regulate activity of inhibitory neurons early in development. DS is associated with a high incidence of sudden unexpected death in epilepsy (SUDEP) by a mechanism that may involve respiratory failure.
View Article and Find Full Text PDFEpileptic Disord
September 2025
Unit of Child Neurology and Psychiatry, ASST-Spedali Civili of Brescia, Brescia, Italy.
Protein ufymilation is a post-translational modification implicated in the regulation of several cellular processes. Biallelic variants in UBA5 causing a functional alteration of its protein product have been associated with early-onset epileptic encephalopathy 44 (EIEE44), a rare disease for which 28 patients have been described in the literature at present. We here report on the clinical and detailed EEG phenotype of a novel patient affected by EIEE44.
View Article and Find Full Text PDFStem Cell Res
September 2025
The Florey, University of Melbourne, Melbourne, VIC, Australia; Praxis Precision Medicines, Cambridge, MA, USA. Electronic address:
The KCNT1 gene, affected in early-onset epilepsies, encodes a T-type sodium-activated potassium channel, K1.1, involved in membrane post-firing re-hyperpolarisation in various neuronal cell types. Fibroblasts from a boy with early-onset epilepsy carrying a heterozygous missense (R950Q) KCNT1 variant were reprogrammed using Sendai virus.
View Article and Find Full Text PDFRev Peru Med Exp Salud Publica
August 2025
Centro Básico de Investigación en Demencias y Enfermedades Desmielinizantes del Sistema Nervioso, Instituto Nacional de Ciencias Neurológicas, Lima, Perú.
Background: Motivation for the study. To describe the clinical characteristics of early-onset Alzheimer's disease (EOAD) and compare them according to gender. This condition is considered a rare disease, whose manifestations are still poorly understood.
View Article and Find Full Text PDFClin Genet
October 2025
Department of Neuropediatrics, CréER, ERN EpiCare, Strasbourg University Hospitals, Strasbourg, France.
We report the first known case of a 9-year-old male with early-onset epilepsy, syncope, and ictal asystole-requiring pacemaker implantation at the age of seven-associated with a pathogenic variant in FGF12.
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