A5056605349- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Fetal and Pediatric Neurological Disorders
- Neuroscience and Neuropharmacology Research
- Neonatal and fetal brain pathology
- Tuberous Sclerosis Complex Research
- Advanced Neuroimaging Techniques and Applications
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Mitochondrial Function and Pathology
- Transcranial Magnetic Stimulation Studies
- Cancer, Hypoxia, and Metabolism
- Ion Transport and Channel Regulation
- Hedgehog Signaling Pathway Studies
- Neurological disorders and treatments
- Neurobiology of Language and Bilingualism
- Hereditary Neurological Disorders
- Glioma Diagnosis and Treatment
- Histiocytic Disorders and Treatments
- Tumors and Oncological Cases
- Cerebrospinal fluid and hydrocephalus
- Hormonal Regulation and Hypertension
- Neurofibromatosis and Schwannoma Cases
- Diet and metabolism studies
Schön Klinik Vogtareuth
2005-2024
Center for Children
2014-2015
Universitätsklinikum Erlangen
2010
Bethel University
1999
Beth Israel Deaconess Medical Center
1997
Heinrich Heine University Düsseldorf
1997
München Klinik
1984
Glucose transporter-1 deficiency syndrome is caused by mutations in the SLC2A1 gene majority of patients and results impaired glucose transport into brain. From 2004–2008, 132 requests for mutational analysis were studied automated Sanger sequencing multiplex ligation-dependent probe amplification. Mutations detected 54 (41%) subsequently three clinically affected family members. In these 57 we identified 49 different mutations, including six multiple exon deletions, known 37 novel (13...
Abstract Ongoing challenges in diagnosing focal cortical dysplasia (FCD) mandate continuous research and consensus agreement to improve disease definition classification. An International League Against Epilepsy (ILAE) Task Force (TF) reviewed the FCD classification of 2011 identify existing gaps provide a timely update. The following methodology was applied achieve this goal: survey published literature indexed with ((Focal Cortical Dysplasia) AND (epilepsy)) between 01/01/2012 06/30/2021 (...
Abstract It is well established that the reorganizational potential of developing human brain superior to adult brain, but whether age‐dependent differences exist already in prenatal and perinatal period not known. We have studied sensorimotor reorganization 34 patients with congenital hemiparesis (age range, 5–27 years), using transcranial magnetic stimulation functional resonance imaging during simple hand movements. Underlying pathologies were malformations (first second trimester...
ABSTRACT Focal Cortical Dysplasias (FCDs) present with a large clinicopathological spectrum. FCDs are believed to relate directly an epileptogenic condition, although seizure control by surgical resection is variable. This applies in particular young children multilobar FCDs, suffering from severe epilepsies and psychomotor retardation. Herein, we performed comparative analysis of presurgically available data microscopic inspection resected cortical specimens further characterise the...
Abstract Objective Focal cortical dysplasia (FCD) Type 1 and its three subtypes have yet not been fully characterized at the clinical, anatomopathological, molecular level (International League Against Epilepsy [ILAE] FCD classification from 2011). We aimed to describe clinical phenotype of patients with histopathologically confirmed FCD1A obtained a single epilepsy center between 2002 2016. Methods Medical records were retrieved hospital's archive. Results electroencephalography (EEG) video...
Object. Cortical motor organization/reorganization was studied in patients with malformation of cortical development (MCD) by applying two noninvasive mapping techniques: transcranial magnetic stimulation (TMS) and functional resonance (fMR) imaging. Methods. Eight (age range 6–22 years), all suffering from congenital hemiparesis similar severity, were included. Underlying lesions schizencephalies four cases, nonschizencephalic polymicrogyria one, complex hemispheric malformations three. All...
Early motor manifestations are the main components of focal seizures involving frontal lobe. We examined relationship between initial ictal and interictal abnormalities cerebral glucose consumption (rCMRGlc) as assessed by PET in 48 consecutive patients with neocortical origin. Group data analysis revealed that predominantly unilateral clonic had a significant contralateral perirolandic hypometabolism to lesser degree frontomesial hypometabolism. Patients tonic showed within regions was all...
X-linked isolated lissencephaly sequence (XLIS) and subcortical band heterotopia (SBH) are allelic disorders caused by mutations in the <i>doublecortin</i> (<i>DCX</i>) gene. This genetic analysis of seven families revealed four novel <i>DCX</i> The authors detected a high rate somatic mosaicism male female patients with variable penetrance bilateral SBH including nonpenetrance heterozygous woman. In addition, implemented prenatal diagnosis family SBH/XLIS.
Epilepsy-associated malformations of cortical development (MCDs) comprise a variety dysplastic and neoplastic lesions yet undetermined molecular pathology. Histopathologic similarities between MCDs brain in the autosomal inherited neurocutaneous phacomatosis tuberous sclerosis (TSC), which affects TSC1 and/or TSC2 genes, suggest common pathogenetic mechanisms. Previous studies revealed different alterations epilepsy-associated glio-neuronal tumors despite histopathologic similarities. In...
Focal cortical dysplasias with balloon cells (FCD IIb ) usually present characteristic imaging and molecular features, that is, a transmantle sign on fluid‐attenuated inversion recovery MRI abundance of allelic variants the tuberous sclerosis gene 1 ( TSC1 ). Recently, we observed several mineralized lesions n = 5) lacking this pattern which surprisingly turned out as FCD upon neuropathological examination. These revealed an increased frequency TSC2 but not (intron 31: 60% vs. 11% in...
The co-occurrence of self-limited focal epilepsies childhood (SelFEC) and epileptiform discharges in the context SelFEC (EDSelFEC) children with structural brain lesions has received little attention literature to date, mainly form case reports. few reports on occurrence EDSelFEC who have undergone presurgical evaluation due seizures that cannot be controlled by medication also suggests these are relatively rare constellations. Recent publications, other hand, showing suffered pre-/perinatal...
With a few exceptions patients with tuberous sclerosis (TS) suffering from drug-resistant epilepsies have potentially epileptogenic lesions within both hemispheres. Until one decade ago in general such constellation was an xclusion criteria for considerations respect to epilepsy surgery. However experience has shown that it is not so rare find whom over the ears seizures are generated just single focus and these can be good candidates Almost revolutionary further evelopment: multi-step...
To investigate the frequency of epileptiform discharges associated with self-limited focal epilepsy (EDSelFEC) in children who have undergone a hemispherotomy and to evaluate whether patients coexistence EDSelFEC structural hemispheric epilepsies differ from without there are differences between two groups regard preoperative management postoperative outcome.