University of Groningen
Genotyping and phenotyping epilepsies of childhood
Vlaskamp, Danique
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Publication date: 2018
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Vlaskamp, D. (2018). Genotyping and phenotyping epilepsies of childhood. Rijksuniversiteit Groningen.
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Genotyping and phenotyping
epilepsies of childhood
525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp Processed on: 29-10-2018 Processed on: 29-10-2018 Processed on: 29-10-2018
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Layout Douwe Oppewal
Cover design Christien Rondaan
Printed by Ipskamp Printing, Enschede, the Netherlands ISBN 978-94-034-1144-6 (printed version)
978-94-034-1143-9 (e-book)
© Copyright 2018 D.R.M. Vlaskamp, Groningen, the Netherlands
All rights reserved. No part of this publication may be reproduced or transmitted in any forms or by any means, without prior written permission of the author.
This research was funded by the Junior Scientifi c Masterclass.
Unrestricted travel grants were received from the Dutch Society of Child Neurology, Jo Kolk Foundation (VVAO), the Research School of Behavioural and Cognitive Neurosciences (BCN). Conference attendances were fi nancially supported by the BCN.
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Genotyping and phenotyping
epilepsies of childhood
Proefschrift
ter verkrijging van de graad van doctor aan de Rijksuniversiteit Groningen
op gezag van de
rector magnificus prof. dr. E. Sterken en volgens besluit van het College voor Promoties.
De openbare verdediging zal plaatsvinden op woensdag 05 december 2018 om 14.30 uur
door
Danique Rienke Maria Vlaskamp
geboren op 15 mei 1991525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp 525699-L-sub01-bw-Vlaskamp Processed on: 29-10-2018 Processed on: 29-10-2018 Processed on: 29-10-2018
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Prof. dr. C.M.A. van Ravenswaaij-Arts Prof. dr. O.F. Brouwer
Copromotores
Dr. P.M.C. Callenbach Dr. P. Rump
Beoordelingscommissie
Prof. dr. V.V.A.M. Knoers Prof. dr. H.P.H. Kremer Prof. dr. K.P.J. Braun
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COVER
The tree on the cover of this thesis symbolizes the relationship between the genotype and the phenotype
of epilepsies of childhood.
The beautiful tree has deeply anchored, widely spreading roots (genotype) that grow a new flowering tree with a unique pattern of branches,
leaves and blossoms (phenotype).
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6
Paranimfen
Nienke te Grootenhuis Wieke Eggink
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CONTENTS
Chapter 1 Introduction 9
PART I - THE YIELD OF GENETIC TESTING
Chapter 2 Copy number variation in a hospital-based cohort of children with epilepsy 27
Published as: Epilepsia Open. 2017; 2: 244–254.
Chapter 3 Empowerment and anxiety of patients and parents 49 during genetic counseling for epilepsy
Manuscript ready to submit
PART II - GENOTYPE-PHENOTYPE STUDIES
Chapter 4 SYNGAP1 encephalopathy: a distinctive generalized 71 developmental and epileptic encephalopathy
Accepted for publication in Neurology
Chapter 5 Genotype-phenotype correlation of 248 individuals with 95
GRIN2A-related disorders identifies two distinct phenotypic
subgroups associated with different classes of variants, protein domains and functional consequences
Accepted for publication in Brain
Chapter 6 Schizophrenia is a later-onset feature of PCDH19 Girls Clustering Epilepsy 123
Revised version under review
Chapter 7 Haploinsufficiency of the STX1B gene is associated with 145 myoclonic astatic epilepsy
Published as: European Journal of Paediatric Neurology. 2016; 20: 489-492
Chapter 8 PRRT2-related phenotypes in patients with a 16p11.2 deletion 157
Published as: European Journal of Medical Genetics. 2018, in press.
Chapter 9 Positive effect of sodium channel blocking anti-epileptic 177 drugs on neonatal infantile epilepsy due to a SCN2A mutation
Translated from the Dutch paper published as: Epilepsie. 2017;
Periodiek voor Professionals 15, nr.3
Chapter 10 General discussion and a proposal for a diagnostic algorithm 185 for genetic testing for epilepsy
Chapter 11 Nederlandse samenvatting 201
Dankwoord 208
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