Kleefstra-variant syndrome with heterozygous mutations in EHMT1 and KCNQ2 genes: a case report

Neurol Sci. 2016 May;37(5):829-31. doi: 10.1007/s10072-016-2482-4. Epub 2016 Jan 20.

Giovanna Marchese^{1

2}, Francesca Rizzo¹, Anna Guacci¹, Alessandro Weisz^{3

4}, Giangennaro Coppola⁵

¹ Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy.
² Genomix4Life Srl, Department of Medicine and Surgery, University of Salerno, Baronissi, Italy.
³ Laboratory of Molecular Medicine and Genomics, Department of Medicine and Surgery, University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. aweisz@unisa.it.
⁴ Molecular Pathology and Medical Genomics, "SS. Giovanni di Dio e Ruggi d'Aragona, Schola Medica Salernitana" Hospital of the University of Salerno, Salerno, Italy. aweisz@unisa.it.
⁵ Child and Adolescent Neuropsychiatry, Department of Medicine and Surgery, "SS. Giovanni di Dio e Ruggi d'Aragona, Schola Medica Salernitana" Hospital of the University of Salerno, Via S. Allende 1, 84081, Baronissi, SA, Italy. gcoppola@unisa.it.

No abstract available

Keywords: EHMT1; KCNQ2; Kleefstra syndrome; Next generation sequencing; Whole exome sequencing.

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