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Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.

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Title: Novel NPRL3 variant associated with sleep-related hypermotor epilepsy: a case report and educational review.
Authors: Broggi S; S.C. Neurology and Stroke Unit, ASST Sette Laghi, Varese, Italy., Poppert KN; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria., Mauritz M; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria., Kalss G; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria., Leitinger M; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria., Abicht A; Medical Genetics Center (MGZ), Munich, Germany.; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität, Munich, Germany., Trinka E; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Karl Landsteiner Institute for Clinical Neurosciences, Salzburg, Austria., Rossini F; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
Source: Frontiers in neuroscience [Front Neurosci] 2026 Jan 19; Vol. 19, pp. 1669847. Date of Electronic Publication: 2026 Jan 19 (Print Publication: 2025).
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Broggi+S%22">Broggi S</searchLink>; S.C. Neurology and Stroke Unit, ASST Sette Laghi, Varese, Italy.<br /><searchLink fieldCode="AU" term="%22Poppert+KN%22">Poppert KN</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Mauritz+M%22">Mauritz M</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Kalss+G%22">Kalss G</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Leitinger+M%22">Leitinger M</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Abicht+A%22">Abicht A</searchLink>; Medical Genetics Center (MGZ), Munich, Germany.; Department of Neurology, Friedrich-Baur-Institute, Ludwig-Maximilians-Universität, Munich, Germany.<br /><searchLink fieldCode="AU" term="%22Trinka+E%22">Trinka E</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Karl Landsteiner Institute for Clinical Neurosciences, Salzburg, Austria.<br /><searchLink fieldCode="AU" term="%22Rossini+F%22">Rossini F</searchLink>; Department of Neurology, Neurocritical Care, and Neurorehabilitation, Center for Cognitive Neuroscience, Member of European Reference Network EpiCARE, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.; Neuroscience Institute, Center for Cognitive Neuroscience, Christian Doppler University Hospital, Paracelsus Medical University, Salzburg, Austria.
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  Data: <searchLink fieldCode="JN" term="%22101478481%22">Frontiers in neuroscience</searchLink> [Front Neurosci] 2026 Jan 19; Vol. 19, pp. 1669847. <i>Date of Electronic Publication: </i>2026 Jan 19 (<i>Print Publication: </i>2025).
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Frontiers+Research+Foundation%22">Frontiers Research Foundation </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101478481 <i>Publication Model: </i>eCollection <i>Cited Medium: </i>Print <i>ISSN: </i>1662-4548 (Print) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221662453X%22">1662453X </searchLink><i>NLM ISO Abbreviation: </i>Front Neurosci <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2026 Jan 19
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