KFU. Card publication. Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine

KAZAN
FEDERAL UNIVERSITY

- RUS
- 中文
- ES

TESTING GENES IMPLICATED IN THE NOVEL CASE OF FAMILIAL HEMIPLEGIC MIGRAINE

Form of presentation

Articles in international journals and collections

Year of publication

2016

Язык

английский

Authors, employees of KFU

Davidyuk Yuriy Nikolaevich, author

Rizvanov Albert Anatolevich, author

Khaybullina Svetlana Francevna, author

Bibliographic description in the original language

Khaiboullina S. F. Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine / S. F. Khaiboullina, E. G. Mendelevich, E. V. Martynova, Y. N. Davidyuk, R. A. Giniatullin, A. A. Rizvanov // BioNanoSci. - 2016. doi:10.1007/s12668-016-0314-x

Annotation

Familial hemiplegic migraine is a rare monogenetic form of migraine associated with aura and motor dysfunctions. Molecularmechanisms ofFHMstill remain unknown; however, genetic predisposition to the disease has been suggested. We report several cases of FHM diagnosed in three generations of ethnic Tatars, Russian Federation. Apart from clear family character, patients presented with typical features of FHM including aura and ataxia. In order to determine disease genetic markers in these cases, we sequenced several genes (CACNA1A, ATP1A2, SCN1A) previously reported in FHM. Sequence analysis demonstrated absence of the previously identified mutations in genes studied. This is the first genetic study of FHM in the Tatar population. The lack of known FHM associated mutation in these patients suggests presence of yet unidentified mutations in some other genes. Further studies including full genome sequencing are needed to clarify the genetic background of FHM cases in the Tatar population.

Keywords

Familial hemiplegic migraine (FHM), CACNA1A, ATP1A2, SCN1A genes, mutations

The name of the journal

BioNanoScience

URL

http://link.springer.com/article/10.1007/s12668-016-0314-x

Please use this ID to quote from or refer to the card

https://repository.kpfu.ru/eng/?p_id=154758&p_lang=2

Full metadata record

Field DC	Value	Language
dc.contributor.author	Davidyuk Yuriy Nikolaevich	ru_RU
dc.contributor.author	Rizvanov Albert Anatolevich	ru_RU
dc.contributor.author	Khaybullina Svetlana Francevna	ru_RU
dc.date.accessioned	2016-01-01T00:00:00Z	ru_RU
dc.date.available	2016-01-01T00:00:00Z	ru_RU
dc.date.issued	2016	ru_RU
dc.identifier.citation	Khaiboullina S. F. Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine / S. F. Khaiboullina, E. G. Mendelevich, E. V. Martynova, Y. N. Davidyuk, R. A. Giniatullin, A. A. Rizvanov // BioNanoSci. - 2016. doi:10.1007/s12668-016-0314-x	ru_RU
dc.identifier.uri	https://repository.kpfu.ru/eng/?p_id=154758&p_lang=2	ru_RU
dc.description.abstract	BioNanoScience	ru_RU
dc.description.abstract	Familial hemiplegic migraine is a rare monogenetic form of migraine associated with aura and motor dysfunctions. Molecularmechanisms ofFHMstill remain unknown; however, genetic predisposition to the disease has been suggested. We report several cases of FHM diagnosed in three generations of ethnic Tatars, Russian Federation. Apart from clear family character, patients presented with typical features of FHM including aura and ataxia. In order to determine disease genetic markers in these cases, we sequenced several genes (CACNA1A, ATP1A2, SCN1A) previously reported in FHM. Sequence analysis demonstrated absence of the previously identified mutations in genes studied. This is the first genetic study of FHM in the Tatar population. The lack of known FHM associated mutation in these patients suggests presence of yet unidentified mutations in some other genes. Further studies including full genome sequencing are needed to clarify the genetic background of FHM cases in the Tatar population.	ru_RU
dc.language.iso	ru	ru_RU
dc.subject	Familial hemiplegic migraine (FHM)	ru_RU
dc.subject	CACNA1A	ru_RU
dc.subject	ATP1A2	ru_RU
dc.subject	SCN1A genes	ru_RU
dc.subject	mutations	ru_RU
dc.title	Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine	ru_RU
dc.type	Articles in international journals and collections	ru_RU