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
Description
ISSN:1532-2688
DOI:10.1016/j.seizure.2025.05.018