Compound heterozygous SZT2 mutations in two siblings with early-onset epilepsy, intellectual disability and macrocephaly.
Domingues FS, König E, Schwienbacher C, Volpato CB, Picard A, Cantaloni C, Mascalzoni D, Lackner P, Heimbach A, Hoffmann P, Stanzial F, Hicks AA, Parmeggiani L, Benedicenti F, Pellegrin S, Casara G, Pramstaller PP.
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Seizure. 2019 Mar;66:81-85. doi: 10.1016/j.seizure.2018.12.021. Epub 2018 Dec 23.
Seizure. 2019.
PMID: 30818181
Free article.