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Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods

The result's identifiers

  • Result code in IS VaVaI

    <a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00159816%3A_____%2F19%3A00069170" target="_blank" >RIV/00159816:_____/19:00069170 - isvavai.cz</a>

  • Alternative codes found

    RIV/00216224:14110/19:00108488 RIV/65269705:_____/19:00069170

  • Result on the web

    <a href="https://www.sciencedirect.com/science/article/pii/S221332321830121X?via%3Dihub" target="_blank" >https://www.sciencedirect.com/science/article/pii/S221332321830121X?via%3Dihub</a>

  • DOI - Digital Object Identifier

    <a href="http://dx.doi.org/10.1016/j.ebcr.2018.10.003" target="_blank" >10.1016/j.ebcr.2018.10.003</a>

Alternative languages

  • Result language

    angličtina

  • Original language name

    Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods

  • Original language description

    Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by focal seizureswith dominant auditory symptomatology.Wepresent a case report of an 18-year-old patientwith acute onset of seizures associated with epilepsy. Based on the clinical course of the disease and the results of the investigation, the diagnosis of ADLTE with a proven mutation in the RELN gene, which is considered causative, was subsequently confirmed. The aim of this study was to use 3 Tesla (3 T) magnetic resonance imaging (MRI) and advanced neuroimaging methods in a patient with a confirmed diagnosis of ADTLE. Methods: 3 T MRI brain scan and advanced neuroimagingmethods were used in the standard protocols to analyzse voxel-based MRI, cortical thickness, and functional connectivity. Results:MorphometricMRI analysis (blurred grey-whitematter junctions, voxel-based morphometry, and cortical thickness analysis) did not provide any informative results. The functional connectivity analysis revealed higher local synchrony in the patient in the left temporal (middle temporal gyrus), left frontal (supplementary motor area, superior frontal gyrus), and left parietal (gyrus angularis, gyrus supramarginalis) regions and the cingulate (middle cingulate gyrus) as compared to healthy controls. Conclusions: Evidence of multiple areas of functional connectivity supports the theory of epileptogenic networks in ADTLE. Further studies are needed to elucidate this theory.

  • Czech name

  • Czech description

Classification

  • Type

    J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database

  • CEP classification

  • OECD FORD branch

    30210 - Clinical neurology

Result continuities

  • Project

    Result was created during the realization of more than one project. More information in the Projects tab.

  • Continuities

    P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Others

  • Publication year

    2019

  • Confidentiality

    S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Data specific for result type

  • Name of the periodical

    Epilepsy &amp; Behavior Case reports

  • ISSN

    2213-3232

  • e-ISSN

  • Volume of the periodical

    11

  • Issue of the periodical within the volume

    2019

  • Country of publishing house

    US - UNITED STATES

  • Number of pages

    4

  • Pages from-to

    39-42

  • UT code for WoS article

    000467784000010

  • EID of the result in the Scopus database

    2-s2.0-85059336732