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

J 2019

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

ČESKÁ, Katarína, Štefánia AULICKÁ, Ondřej HORÁK, Pavlína DANHOFER, Pavel ŘÍHA et. al.

Základní údaje

Originální název

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

Autoři

ČESKÁ, Katarína (703 Slovensko, domácí), Štefánia AULICKÁ (703 Slovensko, garant, domácí), Ondřej HORÁK (203 Česká republika, domácí), Pavlína DANHOFER (203 Česká republika, domácí), Pavel ŘÍHA (203 Česká republika, domácí), Radek MAREČEK (203 Česká republika, domácí), Jan ŠENKYŘÍK (203 Česká republika, domácí), Ivan REKTOR (203 Česká republika, domácí), Milan BRÁZDIL (203 Česká republika, domácí) a Hana OŠLEJŠKOVÁ (203 Česká republika, domácí)

Vydání

EPILEPSY & BEHAVIOR CASE REPORTS, NEW YORK, ELSEVIER SCIENCE INC, 2019, 2213-3232

Další údaje

Jazyk

angličtina

Typ výsledku

Článek v odborném periodiku

Obor

30210 Clinical neurology

Stát vydavatele

Spojené státy

Utajení

není předmětem státního či obchodního tajemství

Odkazy

URL

Kód RIV

RIV/00216224:14110/19:00108488

Organizační jednotka

Lékařská fakulta

DOI

http://dx.doi.org/10.1016/j.ebcr.2018.10.003

UT WoS

000467784000010

Klíčová slova anglicky

Autosomal dominant temporal lobe epilepsy; RELN gene; 3 Tesla brain MRI; Functional connectivity; Epileptogenic networks

Štítky

14110127, 14110312, 14110320, CF MAFIL, podil, rivok

Příznaky

Mezinárodní význam, Recenzováno

Změněno: 8. 10. 2024 08:31, Ing. Jana Kuchtová

Anotace

V originále

Purpose: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by focal seizures with dominant auditory symptomatology. We present a case report of an 18-year-old patient with 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 neuroimaging methods were used in the standard protocols to analyzse voxel-based MRI, cortical thickness, and functional connectivity. Results: Morphometric MRI analysis (blurred grey-white matter. junctions. voxel-based morphometty, 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, gyms 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. (C) 2018 The Authors. Published by Elsevier Inc.

Návaznosti

NV17-32292A, projekt VaV

Název: Detekce léze u nelezionální epilepsie s využitím multimodálního zobrazování

ROZV/25/LF/2017, interní kód MU

Název: LF - Příspěvek na IP 2017

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, LF - Příspěvek na IP 2017, Interní rozvojové projekty

90062, velká výzkumná infrastruktura

Název: Czech-BioImaging

Citovat

ČESKÁ, Katarína, Štefánia AULICKÁ, Ondřej HORÁK, Pavlína DANHOFER, Pavel ŘÍHA, Radek MAREČEK, Jan ŠENKYŘÍK, Ivan REKTOR, Milan BRÁZDIL a Hana OŠLEJŠKOVÁ. Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods. EPILEPSY & BEHAVIOR CASE REPORTS. NEW YORK: ELSEVIER SCIENCE INC, 2019, roč. 11, č. 2019, s. 39-42. ISSN 2213-3232. Dostupné z: https://dx.doi.org/10.1016/j.ebcr.2018.10.003.

@article{1545497,
   author = {Česká, Katarína and Aulická, Štefánia and Horák, Ondřej and Danhofer, Pavlína and Říha, Pavel and Mareček, Radek and Šenkyřík, Jan and Rektor, Ivan and Brázdil, Milan and Ošlejšková, Hana},
   article_location = {NEW YORK},
   article_number = {2019},
   doi = {http://dx.doi.org/10.1016/j.ebcr.2018.10.003},
   keywords = {Autosomal dominant temporal lobe epilepsy; RELN gene; 3 Tesla brain MRI; Functional connectivity; Epileptogenic networks},
   language = {eng},
   issn = {2213-3232},
   journal = {EPILEPSY & BEHAVIOR CASE REPORTS},
   title = {Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods},
   url = {https://www.sciencedirect.com/science/article/pii/S221332321830121X?via%3Dihub},
   volume = {11},
   year = {2019}
}

TY  - JOUR
ID  - 1545497
AU  - Česká, Katarína - Aulická, Štefánia - Horák, Ondřej - Danhofer, Pavlína - Říha, Pavel - Mareček, Radek - Šenkyřík, Jan - Rektor, Ivan - Brázdil, Milan - Ošlejšková, Hana
PY  - 2019
TI  - Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods
JF  - EPILEPSY & BEHAVIOR CASE REPORTS
VL  - 11
IS  - 2019
SP  - 39-42
EP  - 39-42
PB  - ELSEVIER SCIENCE INC
SN  - 22133232
KW  - Autosomal dominant temporal lobe epilepsy
KW  - RELN gene
KW  - 3 Tesla brain MRI
KW  - Functional connectivity
KW  - Epileptogenic networks
UR  - https://www.sciencedirect.com/science/article/pii/S221332321830121X?via%3Dihub
L2  - https://www.sciencedirect.com/science/article/pii/S221332321830121X?via%3Dihub
N2  - Purpose: Autosomal dominant lateral temporal epilepsy (ADLTE) is a genetic focal epilepsy syndrome characterized by focal seizures with dominant auditory symptomatology. We present a case report of an 18-year-old patient with 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 neuroimaging methods were used in the standard protocols to analyzse voxel-based MRI, cortical thickness, and functional connectivity. Results: Morphometric MRI analysis (blurred grey-white matter. junctions. voxel-based morphometty, 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, gyms 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. (C) 2018 The Authors. Published by Elsevier Inc.
ER  -

ČESKÁ, Katarína, Štefánia AULICKÁ, Ondřej HORÁK, Pavlína DANHOFER, Pavel ŘÍHA, Radek MAREČEK, Jan ŠENKYŘÍK, Ivan REKTOR, Milan BRÁZDIL a Hana OŠLEJŠKOVÁ. Autosomal dominant temporal lobe epilepsy associated with heterozygous reelin mutation: 3 T brain MRI study with advanced neuroimaging methods. \textit{EPILEPSY \&{}amp; BEHAVIOR CASE REPORTS}. NEW YORK: ELSEVIER SCIENCE INC, 2019, roč.~11, č.~2019, s.~39-42. ISSN~2213-3232. Dostupné z: https://dx.doi.org/10.1016/j.ebcr.2018.10.003.

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