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Epilepsia. 2025 Mar 11. doi: 10.1111/epi.18362 Q16.62025

Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2

Kabuki综合征2型新病例的癫痫痉挛和RNA分析 翻译改进

Flavia Privitera  1  2, Camilla Meossi  1  2, Filippo Maria Santorelli  1  2, Emanuele Bartolini  1  3

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  • 1 Department of Developmental Neuroscience, IRCCS Stella Maris Foundation, Pisa, Italy.
  • 2 Molecular Medicine, IRCCS Stella Maris Foundation, Pisa, Italy.
  • 3 Tuscany PhD Program in Neurosciences, University of Florence, Italy.
  • DOI: 10.1111/epi.18362 PMID: 40067214

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    期刊名:Epilepsia

    缩写:EPILEPSIA

    ISSN:0013-9580

    e-ISSN:1528-1167

    IF/分区:6.6/Q1

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    Epileptic spasms and RNA analysis in a new case of Kabuki syndrome type 2