Start Over

PRRT2-related phenotypes in patients with a 16p11.2 deletion

Authors :: Oebele F. Brouwer
Jeroen Knijnenburg
Alexander P.A. Stegmann
Petra M.C. Callenbach
Yvonne J. Vos
Patrick Rump
Nicole de Leeuw
Rick van Minkelen
Anne-Marie F. van der Kevie-Kersemaekers
Trijnie Dijkhuizen
Eva H. Brilstra
Lucia A. A. Giannini
Danique R.M. Vlaskamp
Claudia A. L. Ruivenkamp
Conny M. A. van Ravenswaaij-Arts
Clinical Cognitive Neuropsychiatry Research Program (CCNP)
Human Genetics
MUMC+: DA KG Lab Centraal Lab (9)
RS: FHML non-thematic output
Clinical Genetics
Source :: European journal of medical genetics, 62(4), 265-269. ELSEVIER SCIENCE BV, European Journal of Medical Genetics, 62, 265-269, European journal of medical genetics, 62(4), 265-269. Elsevier Masson SAS, European Journal of Medical Genetics, 62(4), 265-269. Elsevier, European Journal of Medical Genetics, 62, 4, pp. 265-269, European Journal of Medical Genetics, 62(4), 265-269. Elsevier Masson, European Journal of Medical Genetics, 62(4), 265-269. ELSEVIER SCIENCE BV, European Journal of Medical Genetics, 62(4), 265. Elsevier Masson SAS
Publication Year :: 2019
Abstract: We studied the presence of benign infantile epilepsy (BIE), paroxysmal kinesigenic dyskinesia (PKD), and PKD with infantile convulsions (PKD/IC) in patients with a 16p11.2 deletion including PRRT2 or with a PRRT2 loss-of-function sequence variant. Index patients were recruited from seven Dutch university hospitals. The presence of BIE, PKD and PKD/IC was retrospectively evaluated using questionnaires and medical records. We included 33 patients with a 16p11.2 deletion: three (9%) had BIE, none had PKD or PKD/IC. Twelve patients had a PRRT2 sequence variant: BIE was present in four (p = 0.069), PKD in six (p