Elisabeth Stogmann

Summary

Affiliation: Medical University of Vienna
Country: Austria

Publications

  1. ncbi Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy
    Elisabeth Stogmann
    Department of Clinical Neurology, Core Unit of Medical Statistics and Informatics, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090 Vienna, Austria
    Epilepsia 47:437-9. 2006
  2. doi Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
    Elisabeth Stogmann
    Department of Clinical Neurology, Medical University of Vienna, Waehringer Guertel 18 20, A 1090 Vienna, Austria
    Brain 136:1155-60. 2013
  3. doi A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
    E Stogmann
    Department of Neurology, General Hospital, Medical University of Vienna, Vienna, Austria
    Neurogenetics 10:73-7. 2009
  4. doi Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder
    Alexander Zimprich
    Department of Neurology, Medical University of Vienna, Austria
    Psychiatr Genet 18:308-9. 2008
  5. doi Lack of association between ABCC2 gene variants and treatment response in epilepsy
    Eva Hilger
    Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria
    Pharmacogenomics 13:185-90. 2012
  6. ncbi A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy
    Elisabeth Stogmann
    Department of Neurology, University Hospital of Vienna, Vienna, Austria
    Ann Neurol 51:260-3. 2002
  7. ncbi Clinical seizure lateralization in frontal lobe epilepsy
    Silvia Beatrice Bonelli
    Department of Neurology, Medical University of Vienna, Vienna, Austria
    Epilepsia 48:517-23. 2007
  8. doi A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia
    Atbin Djamshidian
    Department of Neurology, Medical University of Vienna Währinger Gürtel 18 20, Vienna A 1097, Austria
    Muscle Nerve 39:389-91. 2009
  9. doi Central serotonin 1A receptor binding in temporal lobe epilepsy: a [carbonyl-(11)C]WAY-100635 PET study
    Eva Assem-Hilger
    Department of Neurology, Medical University of Vienna, Vienna, Austria
    Epilepsy Behav 19:467-73. 2010
  10. doi A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy
    Fritz Zimprich
    Epilepsia 49:1108-9. 2008

Collaborators

Detail Information

Publications10

  1. ncbi Lack of association between a GABA receptor 1 gene polymorphism and temporal lobe epilepsy
    Elisabeth Stogmann
    Department of Clinical Neurology, Core Unit of Medical Statistics and Informatics, Medical University of Vienna, Wahringer Gurtel 18 20, A 1090 Vienna, Austria
    Epilepsia 47:437-9. 2006
    ..To clarify the role of this polymorphism in TLE, we attempted to replicate this study...
  2. doi Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2
    Elisabeth Stogmann
    Department of Clinical Neurology, Medical University of Vienna, Waehringer Guertel 18 20, A 1090 Vienna, Austria
    Brain 136:1155-60. 2013
    ..Given the severity of the mutation and the proposed function of the gene, we consider this mutation as the most likely cause for cortical myoclonic tremor and epilepsy in this family...
  3. doi A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis
    E Stogmann
    Department of Neurology, General Hospital, Medical University of Vienna, Vienna, Austria
    Neurogenetics 10:73-7. 2009
    ..Our results enlarge the mutational and perhaps the nosological spectrum of one of the recently identified subtypes of NCL, called CLN7...
  4. doi Sequence analysis of the complete SLITRK1 gene in Austrian patients with Tourette's disorder
    Alexander Zimprich
    Department of Neurology, Medical University of Vienna, Austria
    Psychiatr Genet 18:308-9. 2008
    ..In conclusion, our results provide no evidence for SLITRK1 playing a major role in TD...
  5. doi Lack of association between ABCC2 gene variants and treatment response in epilepsy
    Eva Hilger
    Department of Clinical Neurology, Medical University of Vienna, Vienna, Austria
    Pharmacogenomics 13:185-90. 2012
    ..The aim of this study was to replicate a previously reported association between drug resistance in epilepsy patients and the 24C>T variant of the ABCC2 gene that codes for the drug efflux transporter MRP2...
  6. ncbi A functional polymorphism in the prodynorphin gene promotor is associated with temporal lobe epilepsy
    Elisabeth Stogmann
    Department of Neurology, University Hospital of Vienna, Vienna, Austria
    Ann Neurol 51:260-3. 2002
    ..Irrespective of the familial background, L-homozygotes display a higher risk for secondarily generalized seizures and status epilepticus...
  7. ncbi Clinical seizure lateralization in frontal lobe epilepsy
    Silvia Beatrice Bonelli
    Department of Neurology, Medical University of Vienna, Vienna, Austria
    Epilepsia 48:517-23. 2007
    ..We systematically analyzed the lateralizing value of clinical seizure semiology in patients with frontal lobe epilepsy (FLE)...
  8. doi A novel mutation in the VCP gene (G157R) in a German family with inclusion-body myopathy with Paget disease of bone and frontotemporal dementia
    Atbin Djamshidian
    Department of Neurology, Medical University of Vienna Währinger Gürtel 18 20, Vienna A 1097, Austria
    Muscle Nerve 39:389-91. 2009
    ..Two family members also showed signs of early hearing impairment, which was confirmed to be sensorineural in one person, a symptom not yet described in the context of IBMPFD...
  9. doi Central serotonin 1A receptor binding in temporal lobe epilepsy: a [carbonyl-(11)C]WAY-100635 PET study
    Eva Assem-Hilger
    Department of Neurology, Medical University of Vienna, Vienna, Austria
    Epilepsy Behav 19:467-73. 2010
    ..Molecular imaging of the 5-HT(1A) receptor may help to define the in vivo neurochemistry of TLE, and may provide a valuable tool in the noninvasive presurgical assessment of patients with medically refractory TLE...
  10. doi A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy
    Fritz Zimprich
    Epilepsia 49:1108-9. 2008