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Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.

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Title: Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
Authors: Ragona F; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Messina G; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Magri S; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Doniselli FM; Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Freri E; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Canafoglia L; Department of Epileptology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Solazzi R; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Gellera C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., Granata T; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy., DiFrancesco JC; Department of Neurology, Fondazione IRCCS S. Gerardo dei Tintori, 20900 Monza, Italy., Castellotti B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Source: NeuroSci [NeuroSci] 2025 Nov 03; Vol. 6 (4). Date of Electronic Publication: 2025 Nov 03.
Publication Type: Journal Article
Journal Info: Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101772310 Publication Model: Electronic Cited Medium: Internet ISSN: 2673-4087 (Electronic) Linking ISSN: 26734087 NLM ISO Abbreviation: NeuroSci Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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  Data: Compound Heterozygous PNKP Variants Causing Developmental and Epileptic Encephalopathy with Severe Microcephaly: Natural History of Two New Cases and Literature Review.
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  Data: <searchLink fieldCode="AU" term="%22Ragona+F%22">Ragona F</searchLink>; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Messina+G%22">Messina G</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Magri+S%22">Magri S</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Doniselli+FM%22">Doniselli FM</searchLink>; Department of Neuroradiology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Freri+E%22">Freri E</searchLink>; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Canafoglia+L%22">Canafoglia L</searchLink>; Department of Epileptology, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Solazzi+R%22">Solazzi R</searchLink>; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Gellera+C%22">Gellera C</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Granata+T%22">Granata T</searchLink>; Department of Pediatric Neuroscience, European Reference Network EPIcare, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.<br /><searchLink fieldCode="AU" term="%22DiFrancesco+JC%22">DiFrancesco JC</searchLink>; Department of Neurology, Fondazione IRCCS S. Gerardo dei Tintori, 20900 Monza, Italy.<br /><searchLink fieldCode="AU" term="%22Castellotti+B%22">Castellotti B</searchLink>; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101772310%22">NeuroSci</searchLink> [NeuroSci] 2025 Nov 03; Vol. 6 (4). <i>Date of Electronic Publication: </i>2025 Nov 03.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22MDPI+AG%22">MDPI AG </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101772310 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2673-4087 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2226734087%22">26734087 </searchLink><i>NLM ISO Abbreviation: </i>NeuroSci <i>Subsets: </i>PubMed not MEDLINE
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              Text: 2025 Nov 03
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