CNNM2 homozygous mutations cause severe refractory hypomagnesemia, epileptic encephalopathy and brain malformations.

导出 LinkOut

翻译打印收藏纠错

作者： Andrea,Accogli ^[1] ; Marcello,Scala ^[1] ; Annalisa,Calcagno ^[2] ; Flavia,Napoli ^[2] ; Natascia,Di Iorgi ^[3] ; Serena,Arrigo ^[4] ; Maria Margherita,Mancardi ^[5] ; Giulia,Prato ^[5] ; Livia,Pisciotta ^[6] ; Mato,Nagel ^[7] ; Mariasavina,Severino ^[8] ; Valeria,Capra ^[9]

作者单位： UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy; Università degli studi di Genova, Italy. ^[1] UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy. ^[2] Università degli studi di Genova, Italy; UOC Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy. ^[3] UOC Gastroenterologia and Endoscopia Pediatrica, Istituto Giannina Gaslini, Genova, Italy. ^[4] UOC Neuropsichiatria Infantile - Centro Epilessia, Istituto Giannina Gaslini, Genova, Italy. ^[5] Università degli studi di Genova, Italy; UOC Neuropsichiatria Infantile - Centro Epilessia, Istituto Giannina Gaslini, Genova, Italy. ^[6] Center for Nephrology and Metabolic Disorders, Weisswasser, Germany. ^[7] UOC Neuroradiologia, Istituto Giannina Gaslini, Genova, Italy. ^[8] UOC Neurochirurgia, Istituto Giannina Gaslini, Genova, Italy. Electronic address: valeriacapra@gaslini.org. ^[9]

关键词 Brain MRI CNNM2 Heterozygous and homozygous mutations Hypomagnesemia Mg(2+)reabsorption Neurological impairment