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.

Basic information

Original name

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

Authors

ČESKÁ, Katarína (703 Slovakia, belonging to the institution), Štefánia AULICKÁ (703 Slovakia, guarantor, belonging to the institution), Ondřej HORÁK (203 Czech Republic, belonging to the institution), Pavlína DANHOFER (203 Czech Republic, belonging to the institution), Pavel ŘÍHA (203 Czech Republic, belonging to the institution), Radek MAREČEK (203 Czech Republic, belonging to the institution), Jan ŠENKYŘÍK (203 Czech Republic, belonging to the institution), Ivan REKTOR (203 Czech Republic, belonging to the institution), Milan BRÁZDIL (203 Czech Republic, belonging to the institution) and Hana OŠLEJŠKOVÁ (203 Czech Republic, belonging to the institution)

Edition

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

Other information

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

30210 Clinical neurology

Country of publisher

United States of America

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

URL

RIV identification code

RIV/00216224:14110/19:00108488

Organization unit

Faculty of Medicine

DOI

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

UT WoS

000467784000010

Keywords in English

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

Abstract

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.

Links

NV17-32292A, research and development project

Name: Detekce léze u nelezionální epilepsie s využitím multimodálního zobrazování

ROZV/25/LF/2017, interní kód MU

Name: LF - Příspěvek na IP 2017

Investor: Ministry of Education, Youth and Sports of the CR, Internal development projects

90062, large research infrastructures

Name: Czech-BioImaging

Citovat

ČESKÁ, Katarína, Štefánia AULICKÁ, Ondřej HORÁK, Pavlína DANHOFER, Pavel ŘÍHA, Radek MAREČEK, Jan ŠENKYŘÍK, Ivan REKTOR, Milan BRÁZDIL and 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, vol. 11, No 2019, p. 39-42. ISSN 2213-3232. Available from: 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 and 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, vol.~11, No~2019, p.~39-42. ISSN~2213-3232. Available from: https://dx.doi.org/10.1016/j.ebcr.2018.10.003.

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