Universität zu Köln

Ying, Zhong, Wang, Irene, Bluemcke, Ingmar, Bulacio, Juan, Alexopoulos, Andreas, Jehi, Lara, Bingaman, William, Gonzalez-Martinez, Jorge, Kobow, Katja, Niestroj, Lisa Marie, Lal, Dennis, Koelble, Konrad and Najm, Imad (2019). A comprehensive clinico-pathological and genetic evaluation of bottom-of-sulcus focal cortical dysplasia in patients with difficult-to-localize focal epilepsy. Epileptic Disord., 21 (1). S. 65 - 78. MONTROUGE: JOHN LIBBEY EUROTEXT LTD. ISSN 1950-6945

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Abstract

Aims. We comprehensively studied the clinical presentation, stereo-EEG and MRI findings, histopathological diagnosis, and brain somatic mutations in a retrospective series of drug-resistant patients with difficult-to-localize epilepsy due to focal cortical dysplasia at the bottom of a sulcus (BOS-FCD).Methods. We identified 10 patients with BOS-FCD from the Cleveland Clinic epilepsy surgery database submitted for intracranial video-EEG monitoring. Brain MRI, including voxel-based morphometric analysis and surgical tissue submitted for histopathology, was reviewed. Paraffin tissue samples from five patients were made available for targeted next-generation sequencing. Postsurgical follow-up was available in nine patients.Results. BOS-FCD was identified in the superior frontal sulcus in six patients, inferior frontal sulcus in one patient, central sulcus in one patient, and intraparietal sulcus in two patients. All patients had stereotyped seizures. Intracranial EEG recordings identified ictal onset at the BOS-FCD in all 10 patients, whereas ictal scalp EEG had a localizing value in only six patients. Complete resection was achieved by lesionectomy or focal corticectomy in nine patients. Histopathologically, six patients had FCD type IIb and three had FCD type IIa. Next-generation sequencing analysis of DNA extracted from lesion-enriched (micro-dissected) tissue from five patients with FCD type II led to the identification of a germline frameshift insertion in DEPDC5, introducing a premature stop in one patient. Eight out of nine patients with available follow-up were completely seizure-free (Engel Class IA) after a mean follow-up period of six years.Conclusion. Our results confirm previous studies classifying difficult-to-localize BOS-FCD into the emerging spectrum of FCD ILAE type II mTORopathies. Further studies with large patient numbers and ultra-deep genetic testing may help to bridge the current knowledge gap in genetic aetiologies of FCD.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Ying, Zhong UNSPECIFIED UNSPECIFIED UNSPECIFIED Wang, Irene UNSPECIFIED UNSPECIFIED UNSPECIFIED Bluemcke, Ingmar UNSPECIFIED UNSPECIFIED UNSPECIFIED Bulacio, Juan UNSPECIFIED UNSPECIFIED UNSPECIFIED Alexopoulos, Andreas UNSPECIFIED UNSPECIFIED UNSPECIFIED Jehi, Lara UNSPECIFIED UNSPECIFIED UNSPECIFIED Bingaman, William UNSPECIFIED UNSPECIFIED UNSPECIFIED Gonzalez-Martinez, Jorge UNSPECIFIED UNSPECIFIED UNSPECIFIED Kobow, Katja UNSPECIFIED UNSPECIFIED UNSPECIFIED Niestroj, Lisa Marie UNSPECIFIED UNSPECIFIED UNSPECIFIED Lal, Dennis UNSPECIFIED UNSPECIFIED UNSPECIFIED Koelble, Konrad UNSPECIFIED UNSPECIFIED UNSPECIFIED Najm, Imad UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-157142
DOI:	10.1684/epd.2019.1028
Journal or Publication Title:	Epileptic Disord.
Volume:	21
Number:	1
Page Range:	S. 65 - 78
Date:	2019
Publisher:	JOHN LIBBEY EUROTEXT LTD
Place of Publication:	MONTROUGE
ISSN:	1950-6945
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language SOMATIC MUTATIONS; CONSENSUS CLASSIFICATION; DIAGNOSTIC METHODS; MAMMALIAN TARGET; MTOR PATHWAY; BRAIN-TISSUE; TASK-FORCE; MRI; VARIANTS; IMPROVES Multiple languages Clinical Neurology Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/15714