The genetic and phenotypic spectrum of GABRB1-related disorders
Source
Brain - ISSN 0006-8950
Tracking brain maturation in vivo : functional connectivity, white matter integrity, and synaptic density in developing mice
Source
EBioMedicine - ISSN 2352-3964-115 (2025) p. 1-16
ATP1A3 variants, variably penetrant short QT intervals, and lethal ventricular arrhythmias
Source
JAMA pediatrics - ISSN 2168-6203- (2025) p. 1-10
Amitriptyline use in individuals with KCNQ2/3 gain-of-function variants : a retrospective cohort study
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Epilepsia - ISSN 0013-9580- (2025) p.
Fibroblast transcriptomics uncovers pathogenic genomic variants in individuals with exome‐negative childhood onset epilepsy
Source
Epilepsia - ISSN 0013-9580- (2025) p. 1-15