Epilepsy with eyelid myoclonias and Sotos syndrome features in a patient with compound heterozygous missense variants in APC2 gene

Affiliations

• ¹ Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy. Electronic address: vincenzo.mastrangel2@studio.unibo.it.
• ² IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.
• ³ Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.
• ⁴ UO Genetica Medica, Policlinico di Sant'Orsola, Bologna, Italy.
• ⁵ IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Neuroradiologia, Bologna, Italy.
• ⁶ Department of Biomedical and Neuromotor Sciences (DIBINEM), University of Bologna, Bologna, Italy; IRCCS Istituto delle Scienze Neurologiche di Bologna, Italy. Full Member of the ERN EpiCARE.