КФУ. Карточка публикации. Testing Genes Implicated in the Novel Case of Familial Hemiplegic Migraine

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TESTING GENES IMPLICATED IN THE NOVEL CASE OF FAMILIAL HEMIPLEGIC MIGRAINE

Форма представления

Статьи в зарубежных журналах и сборниках

Год публикации

2016

Язык

английский

Авторы, сотрудники КФУ

Давидюк Юрий Николаевич, автор

Ризванов Альберт Анатольевич, автор

Хайбуллина Светлана Францевна, автор

Библиографическое описание на языке оригинала

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

Аннотация

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.

Ключевые слова

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

Название журнала

BioNanoScience

URL

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

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https://repository.kpfu.ru/?p_id=154758

Полная запись метаданных

Поле DC	Значение	Язык
dc.contributor.author	Давидюк Юрий Николаевич	ru_RU
dc.contributor.author	Ризванов Альберт Анатольевич	ru_RU
dc.contributor.author	Хайбуллина Светлана Францевна	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/?p_id=154758	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	Статьи в зарубежных журналах и сборниках	ru_RU