Missense variants in ANO4 cause sporadic encephalopathic or familial epilepsy with evidence for a dominant-negative effect
Source
The American journal of human genetics - ISSN 0002-9297-111:6 (2024) p. 1184-1205
Expanded phenotypic spectrum of neurodevelopmental and neurodegenerative disorder Bryant-Li-Bhoj syndrome with 38 additional individuals
Source
European journal of human genetics - ISSN 1018-4813- (2024) p. 1-10
Phenotypic and functional assessment of two novel KCNQ2 gain-of-function variants Y141N and G239S and effects of amitriptyline treatment
Source
Neurotherapeutics - ISSN 1878-7479-21:1 (2024) p. 1-9
Genotype-phenotype associations in 1018 individuals with SCN1A-related epilepsies
Source
Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1046-1059
Developmental epileptic encephalopathy in DLG4-related synaptopathy
Source
Epilepsia - ISSN 0013-9580-65:4 (2024) p. 1029-1045