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

Kód výsledku v 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>

Nalezeny alternativní kódy

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

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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.

Název v anglickém jazyce

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

Popis výsledku anglicky

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.

Druh

J_imp - Článek v periodiku v databázi Web of Science

CEP obor

—

OECD FORD obor

30210 - Clinical neurology

Projekt

Výsledek vznikl pri realizaci vícero projektů. Více informací v záložce Projekty.

Návaznosti

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

Rok uplatnění

2019

Kód důvěrnosti údajů

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

Název periodika

Epilepsy &amp; Behavior Case reports

ISSN

2213-3232

e-ISSN

—

Svazek periodika

11

Číslo periodika v rámci svazku

2019

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

4

Strana od-do

39-42

Kód UT WoS článku

000467784000010

EID výsledku v databázi Scopus

2-s2.0-85059336732