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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
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  Data: Functional and pharmacological investigation of novel and de novo KCND3 variants identified in patients with neurodevelopmental disorders.
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  Data: <searchLink fieldCode="AU" term="%22Tserenlkham+B%22">Tserenlkham B</searchLink>; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.; Laboratory of Epidemiology and Prevention, Kobe Pharmaceutical University, Kobe, Japan.<br /><searchLink fieldCode="AU" term="%22Takayama+K%22">Takayama K</searchLink>; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Zankov+DP%22">Zankov DP</searchLink>; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Gallentine+WB%22">Gallentine WB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cuddapah+VA%22">Cuddapah VA</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Cohen+S%22">Cohen S</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Sonoda+K%22">Sonoda K</searchLink>; Medical Genome Center, National Cerebral and Cardiovascular Center, Suita, Japan.<br /><searchLink fieldCode="AU" term="%22Horie+M%22">Horie M</searchLink>; Department of Cardiovascular Medicine, Shiga University of Medical Science, Otsu, Japan.<br /><searchLink fieldCode="AU" term="%22Ohno+S%22">Ohno S</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%229808008%22">Journal of human genetics</searchLink> [J Hum Genet] 2026 Apr; Vol. 71 (4), pp. 187-193. <i>Date of Electronic Publication: </i>2025 Nov 05.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9808008 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1435-232X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2214345161%22">14345161 </searchLink><i>NLM ISO Abbreviation: </i>J Hum Genet <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1038/s10038-025-01423-0
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      – Code: eng
        Text: English
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              Text: 2026 Apr
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              Y: 2026
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