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A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.

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Title: A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
Authors: Marin R; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil., Rulo G; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; Psychology Unit, Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil., Andrade DM; Adult Genetic Epilepsy (AGE) Program, University of Toronto, Canada., Inuzuka LM; Hospital Sirio-Libanês, São Paulo, Brazil., Castro MAA; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; Mendelics Genomic Analysis, São Paulo, Brazil., Vincentiis S; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil., Guerreiro MM; Department of Neurology, University of Campinas (UNICAMP) Medical School, Campinas, Brazil., Valente KD; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; LIM 21 -University of São Paulo Medical School (FMUSP), São Paulo, Brazil. Electronic address: kette.valente@hc.fm.usp.br.
Source: Seizure [Seizure] 2025 Sep; Vol. 131, pp. 16-21. Date of Electronic Publication: 2025 May 31.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: Elsevier Country of Publication: England NLM ID: 9306979 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-2688 (Electronic) Linking ISSN: 10591311 NLM ISO Abbreviation: Seizure Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
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  Data: <searchLink fieldCode="AU" term="%22Marin+R%22">Marin R</searchLink>; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Rulo+G%22">Rulo G</searchLink>; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; Psychology Unit, Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Andrade+DM%22">Andrade DM</searchLink>; Adult Genetic Epilepsy (AGE) Program, University of Toronto, Canada.<br /><searchLink fieldCode="AU" term="%22Inuzuka+LM%22">Inuzuka LM</searchLink>; Hospital Sirio-Libanês, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Castro+MAA%22">Castro MAA</searchLink>; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; Mendelics Genomic Analysis, São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Vincentiis+S%22">Vincentiis S</searchLink>; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil.<br /><searchLink fieldCode="AU" term="%22Guerreiro+MM%22">Guerreiro MM</searchLink>; Department of Neurology, University of Campinas (UNICAMP) Medical School, Campinas, Brazil.<br /><searchLink fieldCode="AU" term="%22Valente+KD%22">Valente KD</searchLink>; Clinical Hospital of the University of São Paulo Medical School (HCFMUSP), São Paulo, Brazil; LIM 21 -University of São Paulo Medical School (FMUSP), São Paulo, Brazil. Electronic address: kette.valente@hc.fm.usp.br.
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  Data: <searchLink fieldCode="JN" term="%229306979%22">Seizure</searchLink> [Seizure] 2025 Sep; Vol. 131, pp. 16-21. <i>Date of Electronic Publication: </i>2025 May 31.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>9306979 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1532-2688 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210591311%22">10591311 </searchLink><i>NLM ISO Abbreviation: </i>Seizure <i>Subsets: </i>MEDLINE
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      – Type: doi
        Value: 10.1016/j.seizure.2025.05.018
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      – Code: eng
        Text: English
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      – TitleFull: A new developmental and epileptic encephalopathy: PUM1-neurodevelopmental disorder with epilepsy with myoclonic-atonic seizures.
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            NameFull: Marin R
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            – D: 01
              M: 09
              Text: 2025 Sep
              Type: published
              Y: 2025
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              Value: 131
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