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. |
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| 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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| ISSN: | 2673-4087 |
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| DOI: | 10.3390/neurosci6040110 |
