Focke, Niels K.

[["dc.bibliographiccitation.firstpage","170"],["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.lastpage","171"],["dc.bibliographiccitation.volume","52"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Nitsche, M. A."],["dc.contributor.author","Paulus, Walter J."],["dc.date.accessioned","2018-11-07T08:53:26Z"],["dc.date.available","2018-11-07T08:53:26Z"],["dc.date.issued","2011"],["dc.identifier.isi","000294217200549"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22409"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.publisher.place","Malden"],["dc.relation.conference","29th International Epilepsy Congress"],["dc.relation.eventlocation","Rome, ITALY"],["dc.relation.issn","0013-9580"],["dc.title","IMAGE BIAS CORRECTION PROFOUNDLY INFLUENCES VOXEL-BASED MORPHOMETRY IN MESIAL TEMPORAL LOBE EPILEPSY"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1905"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","Human Brain Mapping"],["dc.bibliographiccitation.lastpage","1915"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Scheewe, Sebstian"],["dc.contributor.author","Pantel, Pia M."],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Ebentheuer, Jens"],["dc.contributor.author","Mohr, Alexander"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.date.accessioned","2018-11-07T08:50:18Z"],["dc.date.available","2018-11-07T08:50:18Z"],["dc.date.issued","2011"],["dc.description.abstract","Voxel-based morphometry (VBM) shows a differentiated pattern in patients with atypical Parkinson syndrome but so far has had little impact in individual cases. It is desirable to translate VBM findings into clinical practice and individual classification. To this end, we examined whether a support vector machine (SVM) can provide useful accuracies for the differential diagnosis. We acquired a volumetric 3D T1-weighted MRI of 21 patients with idiopathic Parkinson syndrome (IPS), 11 multiple systems atrophy (MSA-P) and 10 progressive supranuclear palsy (PSP), and 22 healthy controls. Images were segmented, normalized, and compared at group level with SPM8 in a classical VBM design. Next, a SVM analysis was performed on an individual basis with leave-one-out cross-validation. VBM showed a strong white matter loss in the mesencephalon of patients with PSP, a putaminal grey matter loss in MSA, and a cerebellar grey matter loss in patients with PSP compared with IPS. The SVM allowed for an individual classification in PSP versus IPS with up to 96.8% accuracy with 90% sensitivity and 100% specificity. In MSA versus IPS, an accuracy of 71.9% was achieved; sensitivity, however, was low with 36.4%. Patients with IPS could not be differentiated from controls. In summary, a voxel-based SVM analysis allows for a reliable classification of individual cases in PSP that can be directly clinically useful. For patients with MSA and IPS, further developments like quantitative MRI are needed. Hum Brain Mapp 32:1905-1915, 2011. (C) 2011 Wiley Periodicals, Inc."],["dc.identifier.doi","10.1002/hbm.21161"],["dc.identifier.isi","000296850700012"],["dc.identifier.pmid","21246668"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21663"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1065-9471"],["dc.title","Individual Voxel-Based Subtype Prediction can Differentiate Progressive Supranuclear Palsy from Idiopathic Parkinson Syndrome and Healthy Controls"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0135247"],["dc.bibliographiccitation.issue","9"],["dc.bibliographiccitation.journal","PLoS ONE"],["dc.bibliographiccitation.volume","10"],["dc.contributor.author","Bonilha, Leonardo"],["dc.contributor.author","Gleichgerrcht, Ezequiel"],["dc.contributor.author","Fridriksson, Julius"],["dc.contributor.author","Rorden, Chris"],["dc.contributor.author","Breedlove, Jesse L."],["dc.contributor.author","Nesland, Travis"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Focke, Niels K."],["dc.date.accessioned","2018-11-07T09:51:49Z"],["dc.date.available","2018-11-07T09:51:49Z"],["dc.date.issued","2015"],["dc.description.abstract","Rationale Disruptions of brain anatomical connectivity are believed to play a central role in several neurological and psychiatric illnesses. The structural brain connectome is typically derived from diffusion tensor imaging (DTI), which may be influenced by methodological factors related to signal processing, MRI scanners and biophysical properties of neuroanatomical regions. In this study, we evaluated how these variables affect the reproducibility of the structural connectome. Methods Twenty healthy adults underwent 3 MRI scanning sessions (twice in the same MRI scanner and a third time in a different scanner unit) within a short period of time. The scanning sessions included similar T1 weighted and DTI sequences. Deterministic or probabilistic tractography was performed to assess link weight based on the number of fibers connecting gray matter regions of interest (ROI). Link weight and graph theory network measures were calculated and reproducibility was assessed through intra-class correlation coefficients, assuming each scanning session as a rater. Results Connectome reproducibility was higher with data from the same scanner. The probabilistic approach yielded larger reproducibility, while the individual variation in the number of tracked fibers from deterministic tractography was negatively associated with reproducibility. Links connecting larger and anatomically closer ROIs demonstrated higher reproducibility. In general, graph theory measures demonstrated high reproducibility across scanning sessions. Discussion Anatomical factors and tractography approaches can influence the reproducibility of the structural connectome and should be factored in the interpretation of future studies. Our results demonstrate that connectomemapping is a largely reproducible technique, particularly as it relates to the geometry of network architecture measured by graph theory methods."],["dc.identifier.doi","10.1371/journal.pone.0135247"],["dc.identifier.isi","000360613800024"],["dc.identifier.pmid","26332788"],["dc.identifier.purl","https://resolver.sub.uni-goettingen.de/purl?gs-1/12082"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/35991"],["dc.notes.intern","Merged from goescholar"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Public Library Science"],["dc.relation.issn","1932-6203"],["dc.rights","CC BY 4.0"],["dc.rights.uri","https://creativecommons.org/licenses/by/4.0"],["dc.title","Reproducibility of the Structural Brain Connectome Derived from Diffusion Tensor Imaging"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dc.type.version","published_version"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.journal","Epilepsia"],["dc.bibliographiccitation.volume","50"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Klinker, Florian"],["dc.contributor.author","Nitsche, M."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Helms, G."],["dc.date.accessioned","2018-11-07T08:34:23Z"],["dc.date.available","2018-11-07T08:34:23Z"],["dc.date.issued","2009"],["dc.format.extent","58"],["dc.identifier.isi","000264881600193"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/17800"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell Publishing, Inc"],["dc.publisher.place","Malden"],["dc.relation.conference","8th European Congress on Epileptology"],["dc.relation.eventlocation","Berlin, GERMANY"],["dc.relation.issn","0013-9580"],["dc.title","FEASIBILITY OF A NOVEL, QUANTITATIVE MAGNETIZATION TRANSFER MAPPING TECHNIQUE IN FOCAL EPILEPSY"],["dc.type","conference_abstract"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","92"],["dc.bibliographiccitation.issue","1"],["dc.bibliographiccitation.journal","Brain Stimulation"],["dc.bibliographiccitation.lastpage","96"],["dc.bibliographiccitation.volume","7"],["dc.contributor.author","Chaieb, Leila"],["dc.contributor.author","Antal, Andrea"],["dc.contributor.author","Pisoni, Alberto"],["dc.contributor.author","Saiote, Catarina"],["dc.contributor.author","Opitz, Alexander"],["dc.contributor.author","Ambrus, Geza Gergely"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Paulus, Walter J."],["dc.date.accessioned","2018-11-07T09:46:49Z"],["dc.date.available","2018-11-07T09:46:49Z"],["dc.date.issued","2014"],["dc.description.abstract","Background: Sinusoidal transcranial alternating current stimulation (tACS) at 5 kHz applied for 10 min at 1 mA intensity over the hand area of the primary motor cortex (M1) results in sustained changes in cortical excitability as previously demonstrated. Objective: Here we have assessed safety aspects of this stimulation method by measuring neuron-specific enolase (NSE) levels, examining electroencephalogram (EEG) traces and analyzing anatomical data by using magnetic resonance imaging (MRI). Methods: Altogether 18 healthy volunteers participated in the study. tACS was applied at 5 kHz for a duration of 10 min over the left M1 at an intensity of 1 mA. Results: After stimulation no significant changes were detected in NSE levels, no structural alterations were observed in the anatomical scans and no pathological changes were found in the EEG recordings. Conclusions: Our data imply that the application of tACS is safe at least within these parameters and with these applied protocols. (C) 2014 Elsevier Inc. All rights reserved."],["dc.identifier.doi","10.1016/j.brs.2013.08.004"],["dc.identifier.isi","000329947300014"],["dc.identifier.pmid","24064065"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/34974"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Elsevier Science Inc"],["dc.relation.issn","1876-4754"],["dc.relation.issn","1935-861X"],["dc.title","Safety of 5 kHz tACS"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","2087"],["dc.bibliographiccitation.issue","11"],["dc.bibliographiccitation.journal","American Journal of Neuroradiology"],["dc.bibliographiccitation.lastpage","2092"],["dc.bibliographiccitation.volume","32"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Panthel, K."],["dc.contributor.author","Scheewe, Sebstian"],["dc.contributor.author","Knauth, Michael"],["dc.contributor.author","Bachmann, Cornelius G."],["dc.contributor.author","Ebentheuer, Jens"],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Paulus, Walter J."],["dc.contributor.author","Trenkwalder, Claudia"],["dc.date.accessioned","2018-11-07T08:49:06Z"],["dc.date.available","2018-11-07T08:49:06Z"],["dc.date.issued","2011"],["dc.description.abstract","BACKGROUND AND PURPOSE: The differential diagnosis of Parkinson syndromes remains a major challenge. Quantitative MR imaging can aid in this classification, but it is unclear which of the proposed techniques is best suited for this task. We, therefore, conducted a head-to-head study with different quantitative MR imaging measurements in patients with IPS, MSA-type Parkinson, PSP, and healthy elderly controls. MATERIALS AND METHODS: Thirty-one patients and 13 controls underwent a comprehensive quantitative MR imaging protocol including R2 -, R2- and R1-mapping, magnetization transfer, and DTI with manual region-of-interest measurements in basal ganglia regions. Group differences were assessed with a post hoc ANOVA with a Bonferroni error correction and an ROC. RESULTS: The best separation of MSA from (PS in patients and controls could be achieved with R2 -mapping in the PU, with an ROC AUC of <= 0.96, resulting in a sensitivity of 77.8% (with a specificity 100%). MD was increased in patients with PSP compared with controls and to a lesser extent compared with those with IPS and MSA in the SN. CONCLUSIONS: Among the applied quantitative MR imaging methods, R2 -mapping seems to have the best predictive power to separate patients with MSA from those with IPS, and DTI for identifying PSP."],["dc.identifier.doi","10.3174/ajnr.A2865"],["dc.identifier.isi","000298775200021"],["dc.identifier.pmid","21998102"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/21378"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Amer Soc Neuroradiology"],["dc.relation.issn","0195-6108"],["dc.title","Differentiation of Typical and Atypical Parkinson Syndromes by Quantitative MR Imaging"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","1164"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","NeuroImage"],["dc.bibliographiccitation.lastpage","1170"],["dc.bibliographiccitation.volume","56"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Helms, G."],["dc.contributor.author","Kaspar, S."],["dc.contributor.author","Diederich, Christine"],["dc.contributor.author","Toth, V."],["dc.contributor.author","Dechent, Peter"],["dc.contributor.author","Mohr, A."],["dc.contributor.author","Paulus, Walter J."],["dc.date.accessioned","2018-11-07T08:55:43Z"],["dc.date.available","2018-11-07T08:55:43Z"],["dc.date.issued","2011"],["dc.description.abstract","Voxel-based morphometry (VBM) is a widely applied method in computational neurosciences but it is currently recommended to compare only data collected at a single MRI scanner. Multi-site VBM would be a desirable approach to increase group size and, thus, statistical power. We aimed to assess if multi-site VBM is feasible on similar hardware and compare the magnitude of inter- and intra-scanner differences. 18 healthy subjects were scanned in two identical 3 T MRI scanners using different head coil designs, twice in scanner A and once in scanner B. 3D T1-weighted images were processed with SPM8 and FSL4.1 and compared as paired t-test (scan versus re-scan) on a voxel basis by means of a general linear model (GLM). Additionally, coefficient-of-difference (coeffD) maps were calculated for respective pairs of gray matter segmentations. We found considerable inter-scanner differences clearly exceeding a commonly used GLM significance threshold of p<0.05 (FWE corrected). The spatial pattern of detected differences was dependent on whether SPM8 or FSL4.1 was used. The inclusion of global correcting factors either aggravated (SPM8) or reduced the GLM detected differences ( FSL4.1). The coeffD analysis revealed markedly higher variability within the FSL4.1 stream both for the inter- and the intra-scanner comparison. A lowered bias cutoff (30 mm FWHM) in SPM8 improved the comparability for cortical areas. lima-scanner scan/re-scan differences were generally weaker and did not exceed a p<0.05 (FWE corrected) threshold in the GEM analysis. At 3 T profound inter-scanner differences are to be expected that could severely confound an unbalanced VBM analysis. These are like related to the receive bias of the radio-frequency hardware. (C) 2011 Elsevier Inc. All rights reserved."],["dc.description.sponsorship","University Medical Center Gottingen(\"Ruckkehrer-Startforderung\")"],["dc.identifier.doi","10.1016/j.neuroimage.2011.02.029"],["dc.identifier.isi","000290649300031"],["dc.identifier.pmid","21324367"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/22970"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Academic Press Inc Elsevier Science"],["dc.relation.issn","1053-8119"],["dc.title","Multi-site voxel-based morphometry - Not quite there yet"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","e0266107"],["dc.bibliographiccitation.issue","3"],["dc.bibliographiccitation.journal","PLoS One"],["dc.bibliographiccitation.volume","17"],["dc.contributor.author","Mohd Zulkifly, Mohd Faizal"],["dc.contributor.author","Lehr, Albert"],["dc.contributor.author","van de Velden, Daniel"],["dc.contributor.author","Khan, Asad"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Wolters, Carsten H."],["dc.contributor.author","Paulus, Walter"],["dc.contributor.editor","Schwenkreis, Peter"],["dc.date.accessioned","2022-04-01T10:02:01Z"],["dc.date.available","2022-04-01T10:02:01Z"],["dc.date.issued","2022"],["dc.description.abstract","Interindividual anatomical differences in the human cortex can lead to suboptimal current directions and may result in response variability of transcranial electrical stimulation methods. These differences in brain anatomy require individualized electrode stimulation montages to induce an optimal current density in the targeted area of each individual subject. We aimed to explore the possible modulatory effects of 140 Hz transcranial alternating current stimulation (tACS) on the somatosensory cortex using personalized multi-electrode stimulation montages. In two randomized experiments using either tactile finger or median nerve stimulation, we measured by evoked potentials the plasticity aftereffects and oscillatory power changes after 140 Hz tACS at 1.0 mA as compared to sham stimulation (n = 17, male = 9). We found a decrease in the power of oscillatory mu-rhythms during and immediately after tactile discrimination tasks, indicating an engagement of the somatosensory system during stimulus encoding. On a group level both the oscillatory power and the evoked potential amplitudes were not modulated by tACS neither after tactile finger stimulation nor after median nerve stimulation as compared to sham stimulation. On an individual level we could however demonstrate that lower angular difference (i.e., differences between the injected current vector in the target region and the source orientation vector) is associated with significantly higher changes in both P20/N20 and N30/P30 source activities. Our findings suggest that the higher the directionality of the injected current correlates to the dipole orientation the greater the tACS-induced aftereffects are."],["dc.identifier.doi","10.1371/journal.pone.0266107"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/105804"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-530"],["dc.relation.eissn","1932-6203"],["dc.rights.uri","http://creativecommons.org/licenses/by/4.0/"],["dc.title","Directionality of the injected current targeting the P20/N20 source determines the efficacy of 140 Hz transcranial alternating current stimulation (tACS)-induced aftereffects in the somatosensory cortex"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.firstpage","3332"],["dc.bibliographiccitation.issue","7"],["dc.bibliographiccitation.journal","Human Brain Mapping"],["dc.bibliographiccitation.lastpage","3342"],["dc.bibliographiccitation.volume","35"],["dc.contributor.author","Focke, Niels K."],["dc.contributor.author","Diederich, Christine"],["dc.contributor.author","Helms, Gunther"],["dc.contributor.author","Nitsche, Michael A."],["dc.contributor.author","Lerche, Holger"],["dc.contributor.author","Paulus, Walter J."],["dc.date.accessioned","2018-11-07T09:38:28Z"],["dc.date.available","2018-11-07T09:38:28Z"],["dc.date.issued","2014"],["dc.description.abstract","Objectives Idiopathic-generalized epilepsy (IGE) is currently considered to be a genetic disease without structural alterations on conventional MRI. However, voxel-based morphometry has shown abnormalities in IGE. Another method to analyze the microstructure of the brain is diffusion-tensor imaging (DTI). We sought to clarify which structural alterations are present in IGE and the most frequent subsyndrome juvenile myoclonic epilepsy (JME). Experimental design We studied 25 patients (13 IGE and 12 JME) and 44 healthy controls with DTI. Fractional anisotropy (FA), mean diffusivity (MD), axial and radial diffusivity (AD/RD) were calculated and group differences were analyzed using tract-based spatial statistics (TBSS). Additionally we performed a target-based classification of TBSS results based on the Freesurfer cortical regions. Principle observations TBSS showed widespread FA reductions as well as MD and RD increases in patients compared to controls. Affected areas were corpus callosum, corticospinal tract, superior and inferior longitudinal fasciculus and supplementary motor regions. No significant differences were found between JME and IGE subgroups. The target-based classification confirmed a particular involvement of the superior frontal gyrus (mesiofrontal area) in IGE/ME. Conclusions IGE and JME patients showed clear microstructural alterations in several large white matter tracts. Similar findings have been reported in rodent models of IGE. Previous, region-of-interest-based DTI studies may have under-estimated the spatial extent of structural loss associated with generalized epilepsy. The comparison of clinically defined JME and IGE groups revealed no significant DTI differences in our cohort. Hum Brain Mapp 35:3332-3342, 2014. (c) 2013 Wiley Periodicals, Inc."],["dc.description.sponsorship","University Medical Center Gottingen, (Ruckkehrer-Startforderung)"],["dc.identifier.doi","10.1002/hbm.22405"],["dc.identifier.isi","000337746800035"],["dc.identifier.pmid","25050427"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/33073"],["dc.notes.status","zu prüfen"],["dc.notes.submitter","Najko"],["dc.publisher","Wiley-blackwell"],["dc.relation.issn","1097-0193"],["dc.relation.issn","1065-9471"],["dc.title","Idiopathic-generalized epilepsy shows profound white matter diffusiontensor imaging alterations"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.peerReviewed","yes"],["dc.type.status","published"],["dspace.entity.type","Publication"]]

[["dc.bibliographiccitation.artnumber","ajmg.a.62427"],["dc.bibliographiccitation.firstpage","3838"],["dc.bibliographiccitation.issue","12"],["dc.bibliographiccitation.journal","American Journal of Medical Genetics Part A"],["dc.bibliographiccitation.lastpage","3843"],["dc.bibliographiccitation.volume","185"],["dc.contributor.affiliation","Puk, Oliver; 2\r\nPraxis für Humangenetik Tübingen\r\nTübingen Germany"],["dc.contributor.affiliation","Biskup, Saskia; 2\r\nPraxis für Humangenetik Tübingen\r\nTübingen Germany"],["dc.contributor.affiliation","Krahn, Arne; 1\r\nDepartment of Neurology\r\nUniversity Medical Center, Georg‐August University\r\nGöttingen Germany"],["dc.contributor.affiliation","Rauf, Erik; 1\r\nDepartment of Neurology\r\nUniversity Medical Center, Georg‐August University\r\nGöttingen Germany"],["dc.contributor.affiliation","Kreilkamp, Barbara A. K.; 1\r\nDepartment of Neurology\r\nUniversity Medical Center, Georg‐August University\r\nGöttingen Germany"],["dc.contributor.affiliation","Paulus, Walter; 5\r\nDepartment of Clinical Neurophysiology\r\nUniversity Medical Center, Georg‐August University\r\nGöttingen Germany"],["dc.contributor.affiliation","Focke, Niels K.; 1\r\nDepartment of Neurology\r\nUniversity Medical Center, Georg‐August University\r\nGöttingen Germany"],["dc.contributor.author","Heide, Ev‐Christin"],["dc.contributor.author","Puk, Oliver"],["dc.contributor.author","Biskup, Saskia"],["dc.contributor.author","Krahn, Arne"],["dc.contributor.author","Rauf, Erik"],["dc.contributor.author","Kreilkamp, Barbara A. K."],["dc.contributor.author","Paulus, Walter"],["dc.contributor.author","Focke, Niels K."],["dc.date.accessioned","2021-09-01T06:42:50Z"],["dc.date.available","2021-09-01T06:42:50Z"],["dc.date.issued","2021"],["dc.date.updated","2022-03-21T02:12:09Z"],["dc.description.abstract","Abstract Pathogenic variants in HECW2 are extremely rare. So far, only 19 cases have been reported. They were associated with epilepsy, intellectual disability, absent language, hypotonia, and autism. As these cases were all de novo mutations, mostly presenting without identical variants, variable expressivity has never been investigated. Here, we describe the first family with the same novel variant in HECW2. A 19‐year old female patient presented with bursts of generalized spike–wave discharges and intellectual disability. We performed next‐generation‐sequencing, to detect the genetic cause. Next‐generation‐sequencing revealed a novel likely pathogenic variant in HECW2 (c.3571C>T; p.Arg1191Trp) in the index patient, her mother and brother. They showed some similar phenotypic patterns with intellectual disability, hypotonia and generalized epileptiform patterns. However, the mother was less severely affected and epileptiform patterns were less frequent. The brother presented with additional autistic features. In contrast to previous cases, the speech of all individuals was only mildly impaired. This is the first case report of a family with the same novel likely pathogenic variant in HECW2 and as such provides insight into the phenotypic variability of this mutation. The expressivity of symptoms may be so mild that genetic and EEG analysis are needed to disclose the correct diagnosis."],["dc.identifier.doi","10.1002/ajmg.a.62427"],["dc.identifier.uri","https://resolver.sub.uni-goettingen.de/purl?gro-2/89154"],["dc.language.iso","en"],["dc.notes.intern","DOI-Import GROB-455"],["dc.relation.eissn","1552-4833"],["dc.relation.issn","1552-4825"],["dc.rights","This is an open access article under the terms of the Creative Commons Attribution‐NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes."],["dc.title","A novel likely pathogenic heterozygous HECW2 missense variant in a family with variable expressivity of neurodevelopmental delay, hypotonia, and epileptiform EEG patterns"],["dc.type","journal_article"],["dc.type.internalPublication","yes"],["dc.type.subtype","original_ja"],["dspace.entity.type","Publication"]]