PIK3C2B germline heterozygous mutations cause defective lipid signaling and focal epilepsy
Sara Baldassari,Luca Gozzelino,Gaga Kochlamazashvili,Albert Ian Mackintosh,Laura Licchetta,Emanuela Iovino,Yu-Chi Liu,Brigid M. Regan,Mark F. Bennett,John A. Damiano,Gabor Zsurka,Caterina Marconi,Tania Giangregorio,Pamela Magini,Marijn Kuijpers,Tanja Maritzen,Giuseppe Danilo Norata,Stephanie Baulac,Laura Canafoglia,Marco Seri,Paolo Tinuper,Ingrid Scheffer,Melanie Bahlo,Sam Berkovic,Michael S. Hildebrand,Wolfram Kunz,Lucio Giordano,Francesca Bisulli,Miriam Martini,Volker Haucke,Emilio Hirsch,Tommaso Pippucci EUROPEAN JOURNAL OF HUMAN GENETICS(2023)
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