Children with MOG-IgG positive bilateral optic neuritis misdiagnosed as fulminant idiopathic intracranial hypertension.

Background: Fulminant idiopathic intracranial hypertension (IIH) is characterized by headache, rapid decrease of vision and elevated CSF-opening pressure.

Objective: To delineate a subgroup of MOGAD mimicking fulminant IIH.

Methods: In this case series children with MOGAD with vision loss, optic disc swelling and elevated CSF opening pressure, initially diagnosed with fulminant IIH, were included.

Nurture growth: Ketogenic diet therapy and growth velocity in infants under 12 months with epilepsy - A systematic review and infant data study.

Ketogenic diet therapy (KDT) is well established for the treatment of early epileptic encephalopathies and specific aetiologies; however, the impact on growth in infancy remains controversial. Our aim was to examine the influence of early KDT on growth velocity and height percentiles completing two tasks. First, we systematically reviewed the literature on growth in infants younger than 12 months.

DBS emergency surgery for treatment of dystonic storm associated with rhabdomyolysis and acute colitis in DYT-GNAO1.

Introduction: Patients with variants in the GNAO1 gene may present with life-threatening dystonic storm. There is little experience using pallidal deep brain stimulation (DBS) as an emergency treatment in such cases.

Case Description: We report on a 16-year-old girl with a variant in the GNAO1 gene (c.

Pitfalls in Genetic Diagnostics: Why Phenotyping is Essential.

New genetic testing technologies have revolutionized medicine within the past years. It is foreseeable that the development will continue with the introduction of new techniques. Nevertheless, despite improved technology, an exact clinical description of the phenotype is still necessary and it is important to critically question findings, both before initiating genetic testing and when interpreting the results.

Multi-scale image analysis and prediction of visual field defects after selective amygdalohippocampectomy.

Selective amygdalohippocampectomy is an effective treatment for patients with therapy-refractory temporal lobe epilepsy but may cause visual field defect (VFD). Here, we aimed to describe tissue-specific pre- and postoperative imaging correlates of the VFD severity using whole-brain analyses from voxel- to network-level. Twenty-eight patients with temporal lobe epilepsy underwent pre- and postoperative MRI (T1-MPRAGE and Diffusion Tensor Imaging) as well as kinetic perimetry according to Goldmann standard.

Tracking the brain in myotonic dystrophies: A 5-year longitudinal follow-up study.

Objectives: The aim of this study was to examine the natural history of brain involvement in adult-onset myotonic dystrophies type 1 and 2 (DM1, DM2).

Methods: We conducted a longitudinal observational study to examine functional and structural cerebral changes in myotonic dystrophies. We enrolled 16 adult-onset DM1 patients, 16 DM2 patients, and 17 controls.

Variation on the dopamine D2 receptor gene (DRD2) is associated with basal ganglia-to-frontal structural connectivity.

Dopaminergic neurotransmission in the mesocortical system is crucial for higher order cognition. Common variation on the dopamine D2 receptor (DRD2) gene has been linked to individual differences in dopaminergic signaling and was also repeatedly associated to cognitive markers. The relationship between dopaminergic genetic variants and neurostructural properties of the mesocortical system, however, has received little attention so far.

Serotonin and the Brain's Rich Club-Association Between Molecular Genetic Variation on the TPH2 Gene and the Structural Connectome.

The rich club comprises a densely mutually connected set of hub regions in the brain, thought to serve as a processing and integration core. We assessed the impact of normal variation of the tryptophane hydroxylase 2 gene's promotor region (TPH2 rs4570625) on structural connectivity of the rich club pathways by means of a candidate gene association design. Tryptophane hydroxylase 2 (TPH2) is a rate-limiting enzyme in the biosynthesis of serotonin and is known to inhibit, in addition to its role as a trans-synaptic messenger, axonal and dendritic growth.

Distinct white matter integrity in glutamic acid decarboxylase and voltage-gated potassium channel-complex antibody-associated limbic encephalitis.

Objective: Autoantibodies against glutamic acid decarboxylase (GAD) and the voltage-gated potassium channel (VGKC) complex are associated with distinct subtypes of limbic encephalitis regarding clinical presentation, response to therapy, and outcome. The aim of this study was to investigate white matter changes in these two limbic encephalitis subtypes by means of diffusion tensor imaging (DTI).

Methods: Diffusion data were obtained in 14 patients with GAD antibodies and 16 patients with VGKC-complex antibodies and compared with age- and gender-matched control groups.

Presurgical entorhinal cortex volume and postoperative seizure outcome in temporal lobe epilepsy.

Background: Although temporal lobe surgery is an effective treatment for patients with intractable mesial temporal lobe epilepsy (mTLE), a third of patients will continue to experience seizures at 2 years after surgery. The reasons are unknown. One suggestion is that patients with abnormalities of the entorhinal cortex might have a subtype of mTLE that is resistant to surgery.

Brain tumors in children with refractory seizures—a long-term follow-up study after epilepsy surgery.

Purpose: Epilepsy surgery is an established treatment option for medically refractory epilepsy. Brain tumors, besides dysplasias, vascular malformations, and other lesions, can cause refractory epilepsy. Long-term epilepsy-associated brain tumors, even though mostly benign, are neoplastic lesions and thus have to be considered as both epileptic and oncological lesions.

Structural connectivity changes in temporal lobe epilepsy: Spatial features contribute more than topological measures.

Background: Previous studies reported reduced volumes of many brain regions for temporal lobe epilepsy (TLE). It has also been suggested that there may be widespread changes in network features of TLE patients. It is not fully understood, however, how these two observations are related.

Morphometric MRI alterations and postoperative seizure control in refractory temporal lobe epilepsy.

Refractory mesial temporal lobe epilepsy (mTLE) is a debilitating condition potentially amenable to resective surgery. However, between 40 and 50% patients continue to experience postoperative seizures. The development of imaging prognostic markers of postoperative seizure outcome is a crucial objective for epilepsy research.

Thalamotemporal alteration and postoperative seizures in temporal lobe epilepsy.

Objective: There are competing explanations for persistent postoperative seizures after temporal lobe surgery. One is that 1 or more particular subtypes of mesial temporal lobe epilepsy (mTLE) exist that are particularly resistant to surgery. We sought to identify a common brain structural and connectivity alteration in patients with persistent postoperative seizures using preoperative quantitative magnetic resonance imaging and diffusion tensor imaging (DTI).

Neuropsychological outcome after epilepsy surgery in patients with bilateral Ammon's horn sclerosis.

Object: The purpose of this study was to retrospectively assess the objective and subjective neuropsychological outcome after epilepsy surgery in patients with bilateral Ammon's horn sclerosis (AHS).

Methods: Memory and executive functions were evaluated at baseline and at follow-up in 11 surgically treated patients and compared with 8 pharmacologically treated patients with temporal lobe epilepsy and bilateral AHS. The median follow-up duration was 16 months in the surgically treated patients and 80.

Safety, feasibility and complications during resective pediatric epilepsy surgery: a retrospective analysis.

Background: Resective epilepsy surgery is an established and effective method to reduce seizure burden in drug-resistant epilepsy. It was the objective of this study to assess intraoperative blood loss, transfusion requirements and the degree of hypothermia of pediatric epilepsy surgery in our center.

Methods: Patients were identified by our epilepsy surgery database, and data were collected via retrospective chart review over the past 25 years.

Outcome of limbic encephalitis with VGKC-complex antibodies: relation to antigenic specificity.

In limbic encephalitis (LE) with antibodies (Abs) to the voltage-gated potassium channel complex (VGKC), the Abs are mainly directed to the VGKC-complex proteins, leucine-rich, glioma inactivated 1 protein (LGI1) or contactin-associated protein-like 2 (CASPR-2) or neither. Here, we relate the outcomes of VGKC-LE patients to the presence of Abs to LGI1, CASPR-2 or neither antigen (LGI1/CASPR-2-Ab(-)). Clinical, neuropsychology and MRI data were obtained from patient records for all LE patients from the Bonn Epilepsy Centre positive for VGKC-Abs by radioimmunoprecipitation assay between 2002 and 2011.

In vivo mapping of hippocampal subfields in mesial temporal lobe epilepsy: relation to histopathology.

A particularly popular automated magnetic resonance imaging (MRI) hippocampal subfield mapping technique is the one described by Van Leemput et al. (2009: Hippocampus 19:549-557) that is currently distributed with FreeSurfer software. This method assesses the probabilistic locations of subfields based on a priori knowledge of subfield topology determined from high-field MRI.

Prediction of post-surgical seizure outcome in left mesial temporal lobe epilepsy.

Mesial temporal lobe epilepsy is the most common type of focal epilepsy and in its course often becomes refractory to anticonvulsant pharmacotherapy. A resection of the mesial temporal lobe structures is a promising option in these cases. However, approximately 30% of all patients remain with persistent seizures after surgery.

Quantitative FLAIR analysis indicates predominant affection of the amygdala in antibody-associated limbic encephalitis.

Purpose: Limbic encephalitis is an autoimmune-mediated disease leading to temporal lobe epilepsy, mnestic deficits, and affective disturbances. Magnetic resonance imaging (MRI) usually shows signal and volume changes of the temporomesial structures. However, these abnormalities may be subtle, thereby hampering the diagnosis by conventional visual assessment.

An interaction of a NR3C1 polymorphism and antenatal solar activity impacts both hippocampus volume and neuroticism in adulthood.

The investigation of the interaction of genes and environment in the context of mental health and personality yields important new insights for a better understanding of human nature. Both antenatal and postnatal environmental factors have been considered as potential modulators of genetic activity. Antenatally, especially smoking or alcohol drinking habits of the mother dramatically influence the health of the child during pregnancy and even later on in life.

Progressive fiber tract affections after temporal lobe surgery.

Several studies reported changes in white matter architecture following temporal lobe surgery in patients with temporal lobe epilepsy (TLE) at short intervals after surgery. We investigated 20 patients with left-sided TLE using diffusion-imaging at two time points, that is, at 3-6 months and 12 months after surgery, to investigate postsurgical plasticity. We observed a loss of fiber tract integrity mainly in fiber tracts of the ipsilateral temporal lobe.

Volumetric hemispheric ratio as a useful tool in personality psychology.

The present study investigates the link between volumetric hemispheric ratios (VHRs) and personality measures in N=267 healthy participants using Eysenck's Personality Inventory-Revised (EPQ-R) and the BIS/BAS scales. A robust association between extraversion and VHRs was observed for gray matter in males but not females. Higher gray matter volume in the left than in the right hemisphere was associated with higher extraversion in males.

Concomitant fractional anisotropy and volumetric abnormalities in temporal lobe epilepsy: cross-sectional evidence for progressive neurologic injury.

Background: In patients with temporal lobe epilepsy and associated hippocampal sclerosis (TLEhs) there are brain abnormalities extending beyond the presumed epileptogenic zone as revealed separately in conventional magnetic resonance imaging (MRI) and MR diffusion tensor imaging (DTI) studies. However, little is known about the relation between macroscopic atrophy (revealed by volumetric MRI) and microstructural degeneration (inferred by DTI).

Methodology/principal Findings: For 62 patients with unilateral TLEhs and 68 healthy controls, we determined volumes and mean fractional anisotropy (FA) of ipsilateral and contralateral brain structures from T1-weighted and DTI data, respectively.

Prolonged atrial fibrillation following generalized tonic-clonic seizures.

We describe two male patients with focal epilepsy in whom transitory episodes of atrial fibrillation (AF) lasting for up to 25h were detected in the context of generalized tonic-clonic seizures (GTCSs). In five of seven previously published cases of transitory AF associated with epileptic seizures, AF was also associated with GTCS, suggesting a pathophysiological link via GTCS-related increase in sympathetic tone and release of catecholamines. Importantly, AF increases the risk of thromboembolic cerebral ischemia, prompting the question of whether antithrombotic preventive treatment should be initiated in people with pharmacoresistant epilepsy and prolonged peri-ictal AF.