Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.

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Title: Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.
Authors: Tserenlkham B; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.; Laboratory of Epidemiology and Prevention, Kobe Pharmaceutical University, Kobe, Japan., Takayama K; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan., Zankov DP; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan., Gallentine WB; Division of Child Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Department of Neurology, Stanford University School of Medicine, Stanford, CA, USA.; Pediatric Epilepsy Center, Stanford University School of Medicine, Stanford, CA, USA., Cuddapah VA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA.; Division of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Cohen S; Division of Translational Medicine and Human Genetics, the Hospital of the University of Pennsylvania, Philadelphia, PA, USA.; Genetic Diagnostic Laboratory University of Pennsylvania Perelman School of Medicine, Philadelphia, PA, USA., Sonoda K; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan., Horie M; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan., Ohno S; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan. sohno@ncvc.go.jp.; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan. sohno@ncvc.go.jp.
Source: Journal of human genetics [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 187-193. Date of Electronic Publication: 2025 Nov 05.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 9808008 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1435-232X (Electronic) Linking ISSN: 14345161 NLM ISO Abbreviation: J Hum Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1435-232X
DOI:10.1038/s10038-025-01423-0