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Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.

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Title: Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.
Authors: Sundberg M; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Shum C; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada., Norabuena EM; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Makhortova NR; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Chen C; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Yu L; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wightman EV; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kim K; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Han SY; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada., Howe J; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada., Poduri A; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Buttermore ED; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA., Scherer SW; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Canada. Electronic address: Stephen.Scherer@sickkids.ca., Sahin M; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: Mustafa.Sahin@childrens.harvard.edu.
Source: Neurobiology of disease [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107126. Date of Electronic Publication: 2025 Sep 25.
Publication Type: Journal Article; Research Support, N.I.H., Intramural
Journal Info: Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Human iPSC-derived glutamatergic neurons with pathogenic KCNQ2 variants display hyperactive bursting phenotypes.
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  Data: <searchLink fieldCode="AU" term="%22Sundberg+M%22">Sundberg M</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Shum+C%22">Shum C</searchLink>; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Norabuena+EM%22">Norabuena EM</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Makhortova+NR%22">Makhortova NR</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Chen+C%22">Chen C</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Yu+L%22">Yu L</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Wightman+EV%22">Wightman EV</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Kim+K%22">Kim K</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Han+SY%22">Han SY</searchLink>; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Howe+J%22">Howe J</searchLink>; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada.<br /><searchLink fieldCode="AU" term="%22Poduri+A%22">Poduri A</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Buttermore+ED%22">Buttermore ED</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Human Neuron Core, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA.<br /><searchLink fieldCode="AU" term="%22Scherer+SW%22">Scherer SW</searchLink>; The Centre for Applied Genomics and Genetics and Genome Biology Program, Hospital for Sick Children, Toronto, Ontario, Canada; McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Canada. Electronic address: Stephen.Scherer@sickkids.ca.<br /><searchLink fieldCode="AU" term="%22Sahin+M%22">Sahin M</searchLink>; Department of Neurology, F.M. Kirby Neurobiology Center, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: Mustafa.Sahin@childrens.harvard.edu.
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  Data: <searchLink fieldCode="JN" term="%229500169%22">Neurobiology of disease</searchLink> [Neurobiol Dis] 2025 Nov; Vol. 216, pp. 107126. <i>Date of Electronic Publication: </i>2025 Sep 25.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Academic+Press%22">Academic Press </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9500169 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1095-953X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2209699961%22">09699961 </searchLink><i>NLM ISO Abbreviation: </i>Neurobiol Dis <i>Subsets: </i>MEDLINE
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        Value: 10.1016/j.nbd.2025.107126
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        Text: English
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              Text: 2025 Nov
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