Universität zu Köln

Hiekkala, Marjo Eveliina, Vuola, Pietari, Artto, Ville, Happola, Paavo, Happola, Elisa, Vepsalainen, Salli, Cuenca-Leon, Ester, Lal, Dennis, Gormley, Padhraig ORCID: 0000-0002-8908-6968, Hamalainen, Eija, Ilmavirta, Matti, Nissila, Markku, Sako, Erkki, Sumelahti, Marja-Liisa, Harno, Hanna ORCID: 0000-0002-6526-9436, Havanka, Hannele, Keski-Santti, Petra, Farkkila, Markus, Palotie, Aarno, Wessman, Maija, Kaunisto, Mari Anneli and Kallela, Mikko (2018). The contribution of CACNA1A, ATP1A2 and SCN1A mutations in hemiplegic migraine: A clinical and genetic study in Finnish migraine families. Cephalalgia, 38 (12). S. 1849 - 1864. LONDON: SAGE PUBLICATIONS LTD. ISSN 1468-2982

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Abstract

Objective To study the position of hemiplegic migraine in the clinical spectrum of migraine with aura and to reveal the importance of CACNA1A, ATP1A2 and SCN1A in the development of hemiplegic migraine in Finnish migraine families. Methods The International Classification of Headache Disorders 3rd edition criteria were used to determine clinical characteristics and occurrence of hemiplegic migraine, based on detailed questionnaires, in a Finnish migraine family collection consisting of 9087 subjects. Involvement of CACNA1A, ATP1A2 and SCN1A was studied using whole exome sequencing data from 293 patients with hemiplegic migraine. Results Overall, hemiplegic migraine patients reported clinically more severe headache and aura episodes than non-hemiplegic migraine with aura patients. We identified two mutations, c.1816G>A (p.Ala606Thr) and c.1148G>A (p.Arg383His), in ATP1A2 and one mutation, c.1994C>T (p.Thr665Met) in CACNA1A. Conclusions The results highlight hemiplegic migraine as a clinically and genetically heterogeneous disease. Hemiplegic migraine patients do not form a clearly separate group with distinct symptoms, but rather have an extreme phenotype in the migraine with aura continuum. We have shown that mutations in CACNA1A, ATP1A2 and SCN1A are not the major cause of the disease in Finnish hemiplegic migraine patients, suggesting that there are additional genetic factors contributing to the phenotype.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Hiekkala, Marjo Eveliina UNSPECIFIED UNSPECIFIED UNSPECIFIED Vuola, Pietari UNSPECIFIED UNSPECIFIED UNSPECIFIED Artto, Ville UNSPECIFIED UNSPECIFIED UNSPECIFIED Happola, Paavo UNSPECIFIED UNSPECIFIED UNSPECIFIED Happola, Elisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Vepsalainen, Salli UNSPECIFIED UNSPECIFIED UNSPECIFIED Cuenca-Leon, Ester UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Gormley, Padhraig UNSPECIFIED orcid.org/0000-0002-8908-6968 UNSPECIFIED Hamalainen, Eija UNSPECIFIED UNSPECIFIED UNSPECIFIED Ilmavirta, Matti UNSPECIFIED UNSPECIFIED UNSPECIFIED Nissila, Markku UNSPECIFIED UNSPECIFIED UNSPECIFIED Sako, Erkki UNSPECIFIED UNSPECIFIED UNSPECIFIED Sumelahti, Marja-Liisa UNSPECIFIED UNSPECIFIED UNSPECIFIED Harno, Hanna UNSPECIFIED orcid.org/0000-0002-6526-9436 UNSPECIFIED Havanka, Hannele UNSPECIFIED UNSPECIFIED UNSPECIFIED Keski-Santti, Petra UNSPECIFIED UNSPECIFIED UNSPECIFIED Farkkila, Markus UNSPECIFIED UNSPECIFIED UNSPECIFIED Palotie, Aarno UNSPECIFIED UNSPECIFIED UNSPECIFIED Wessman, Maija UNSPECIFIED UNSPECIFIED UNSPECIFIED Kaunisto, Mari Anneli UNSPECIFIED UNSPECIFIED UNSPECIFIED Kallela, Mikko UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-170129
DOI:	10.1177/0333102418761041
Journal or Publication Title:	Cephalalgia
Volume:	38
Number:	12
Page Range:	S. 1849 - 1864
Date:	2018
Publisher:	SAGE PUBLICATIONS LTD
Place of Publication:	LONDON
ISSN:	1468-2982
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language GENERALIZED EPILEPSY; CONSEQUENCES; VARIANTS; CHANNELS; SPECTRUM Multiple languages Clinical Neurology; Neurosciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/17012