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The evolving genetic and pathophysiological spectrum of migraine Vries, B. de

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migraine

Vries, B. de

Citation

Vries, B. de. (2011, January 20). The evolving genetic and pathophysiological spectrum of migraine. Retrieved from https://hdl.handle.net/1887/16353

Version: Corrected Publisher’s Version

License: Licence agreement concerning inclusion of doctoral thesis in the Institutional Repository of the University of Leiden

Downloaded from: https://hdl.handle.net/1887/16353

Note: To cite this publication please use the final published version (if

applicable).

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The evolving genetic and pathophysiological spectrum of migraine

Boukje de Vries

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The evolving genetic and pathophysiological spectrum of migraine PhD thesis, Leiden University, 20 januari, 2011

ISBN: 978-94-90371-61-6

© Boukje de Vries

Except (parts of):

Chapter 2: John Wiley & Sons, Inc.

Chapter 3: American Academy of Neurology Enterprises, Inc.

Chapter 4: American Medical Association Chapter 5: BMJ Publishing Group Ltd.

Chapter 5 and 6: Nature Publishing Group

No part of this thesis may be reproduced in any form, by print, photocopy, digital file, internet, or any other means without written permission of the copyright owner.

Printed by: Off Page

Cover Design: A. Portier

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The evolving genetic and pathophysiological spectrum of migraine

Proefschrift

ter verkrijging van

de graad van Doctor aan de Universiteit Leiden, op gezag van Rector Magnificus prof. mr. P.F. van der Heijden

volgens besluit van het College voor Promoties te verdedigen op donderdag 20 januari 2011

klokke 15:00 uur

door

Boukje de Vries

geboren te Noordoostpolder

in 1979

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Promotores:

Prof. dr. M.D. Ferrari Prof. dr. R.R. Frants

Co-promotor:

Dr. A.M.J.M. van den Maagdenberg

Overige leden:

Prof. dr. G.J.B. van Ommen Prof. dr. R.A. Roos

Prof. dr. C.M. van Duijn (Erasmus MC, Rotterdam)

Prof. dr. A. Palotie (Sanger Institute, Cambridge, United Kingdom; University of Helsinki, Finland)

The studies presented in this thesis were performed at the Department of Human Genetics of the Leiden University Medical Center (LUMC). This work was supported by grants of the Netherlands Organisation for Scientific Research (NWO) (VICI 918.56.602); the EU sixth framework programme (FP6) “EUROHEAD” (grant LSHM-CT-2004-504837); and the Centre for Medical Systems Biology within the framework of the Netherlands Genomics Initiative (NGI)/Netherlands Organisation for Scientific Research (NWO).

Financial support for the publication of this thesis has been provided by the J.E. Jurriaanse

Stichting, Nederlandse Hoofdpijn Vereniging, Menarini Farma Nederland and Allergan.

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Chapter 1 General Introduction

...

7

Chapter 2 Genetic and functional analysis of FHM gene mutations

...

29

2.1 CACNA1A mutation linking hemiplegic migraine and alternating hemiplegia of childhood

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31

Cephalalgia 2008 28:887-891 2.2 Familial hemiplegic migraine is associated with febrile seizures in an FHM2 family with a novel de novo ATP1A2 mutation

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39

Epilepsia 2009 50:2503-2504 2.3 The novel p.L1649Q mutation in the SCN1A epilepsy gene is associated with familial hemiplegic migraine: genetic and functional studies

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45

Human mutation 2007 28:522 Chapter 3 Systematic analysis of three FHM genes in 39 sporadic patients with hemiplegic migraine

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57

Neurology 2007 4:2170-2176 Chapter 4 Episodic ataxia associated with EAAT1 mutation C186S affecting glutamate reuptake

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73

Archives of Neurology 2009 66:97-101 Chapter 5 Mutations in TREX1 play a role in disorders comorbid with migraine

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85

5.1 C-terminal truncations in human 3’-5’ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy

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87

Nature Genetics 2007 39:1068-1070 5.2 TREX1 gene variant in neuropsychiatric systemic lupus erythematosus

...

103

Annals of the Rheumatic Diseases 2010 69:1886-1887 Chapter 6 Genome-wide association studies in migraine

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109

6.1 Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1

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111

Nature Genetics 2010 467:52-58 6.2 Genome-wide association study for migraine in a Dutch genetic isolate and meta-analysis with other population-based cohorts

...

137

In preparation Chapter 7 RNA expression profiles of familial hemiplegic migraine type 1 mouse models with relevance to migraine-associated cerebellar ataxia

...

161

In preparation Chapter 8 General Discussion

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179

Summary

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208

Nederlandse samenvatting

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211

List of abbreviations

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215

Dankwoord

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217

List of publications

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219

Curriculum Vitae

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223

Contents

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Written informed consent was obtained from all participants, and the study was approved by the respective local research ethics committees of the Helsinki University Central