Co-occurring SYNJ1 and SHANK3 variants in a girl with intellectual disability, early-onset parkinsonism and catatonic episodes

Parkinsonism Relat Disord. 2021 Mar:84:5-7. doi: 10.1016/j.parkreldis.2020.12.022. Epub 2021 Jan 12.

¹ Department of Neuroscience, Sapienza University of Rome, Rome, Italy.
² Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy.
³ Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
⁴ Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy.
⁵ DIBAF, Università Della Tuscia, Viterbo, Italy.
⁶ Department of Neuroscience, Sapienza University of Rome, Rome, Italy. Electronic address: vincenzo.leuzzi@uniroma1.it.

No abstract available

Keywords: Catatonia; Parkinsonism in childhood; Pediatric movement disorders; SHANK3; SYNJ1.

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