TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

doi:10.1038/s41436-020-0823-4

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Article

TSC2 pathogenic variants are predictive of severe clinical manifestations in TSC infants: results of the EPISTOP study.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Sept 2020

Ogórek Barbara, Hamieh Lana, Hulshof Hanna M, Lasseter Kathryn, Klonowska Katarzyna, Kuijf Hugo, Moavero Romina, Hertzberg Christoph, Weschke Bernhard, Riney Kate, Feucht Martha, Scholl Theresa, Krsek Pavel, Nabbout Rima, Jansen Anna C, Benova Barbora, Aronica Eleonora, Lagae Lieven, Curatolo Paolo, Borkowska Julita, Sadowski Krzysztof, Domańska-Pakieła Dorota, Janson Stef, Kozlowski Piotr, Urbanska Malgorzata, Jaworski Jacek, Jozwiak Sergiusz, Jansen Floor E, Kotulska Katarzyna, Kwiatkowski David J

Abstract excerpt

PURPOSE: To perform comprehensive genotyping of TSC1 and TSC2 in a cohort of 94 infants with tuberous sclerosis complex (TSC) and correlate with clinical manifestations. METHODS: Infants were enrolled at age <4 months, and subject to intensive clinical monitoring including electroencephalography (EEG), brain magnetic resonance imaging (MRI), and neuropsychological assessment. Targeted massively parallel...

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PMID: 32461669
DOI: 10.1038/s41436-020-0823-4

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