Thomas Sander

Summary

Publications

  1. ncbi request reprint Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy
    T Sander
    Department of Neurology, Humboldt University Berlin, University Hospital Charite, Germany
    Epilepsy Res 33:227-33. 1999
  2. ncbi request reprint Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy
    Thomas Sander
    Epilepsy Genetics Group, Department of Neurology, University Clinic Charite, Humboldt University of Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    Epilepsy Res 49:173-7. 2002
  3. ncbi request reprint Evaluation of an allelic association of the serotonin 5-HT1B G681C polymorphism with antisocial alcoholism in the German population
    T Sander
    Department of Psychiatry, University Hospital Charite, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany
    Addict Biol 5:167-72. 2000
  4. ncbi request reprint Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12
    Thomas Sander
    Epilepsie Genetik Gruppe, Neurologische Klinik, Universitatsklinikum Charite, Humboldt Universitat zu Berlin, Germany
    Epilepsia 44:32-9. 2003
  5. ncbi request reprint Genetic variation of the glutamate transporter EAAT2 gene and vulnerability to alcohol dependence
    T Sander
    Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany
    Psychiatr Genet 10:103-7. 2000
  6. ncbi request reprint Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Berlin, Germany
    Epilepsy Res 41:75-81. 2000
  7. ncbi request reprint Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Humboldt University of Berlin, Germany
    Epilepsy Res 39:57-61. 2000
  8. ncbi request reprint Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Humboldt University Berlin, Germany
    Epilepsy Res 36:61-7. 1999
  9. ncbi request reprint Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence
    T Sander
    Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany
    Psychiatr Genet 9:69-73. 1999
  10. ncbi request reprint Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany
    Am J Med Genet 88:305-10. 1999

Detail Information

Publications65

  1. ncbi request reprint Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsy
    T Sander
    Department of Neurology, Humboldt University Berlin, University Hospital Charite, Germany
    Epilepsy Res 33:227-33. 1999
    ..48). Therefore, our association study provides no evidence that length variations of polyglutamine arrays in the N-terminus of the hKCa3 channel exert a frequent and relevant effect in the epileptogenesis of common subtypes of IGE...
  2. ncbi request reprint Failure to replicate an allelic association between an exon 8 polymorphism of the human alpha(1A) calcium channel gene and common syndromes of idiopathic generalized epilepsy
    Thomas Sander
    Epilepsy Genetics Group, Department of Neurology, University Clinic Charite, Humboldt University of Berlin, Augustenburger Platz 1, 13353, Berlin, Germany
    Epilepsy Res 49:173-7. 2002
    ..093, df=1, P=0.76). Accordingly, we failed to confirm previous evidence that genetic variation of the CACNA1A gene confers susceptibility to common IGE syndromes...
  3. ncbi request reprint Evaluation of an allelic association of the serotonin 5-HT1B G681C polymorphism with antisocial alcoholism in the German population
    T Sander
    Department of Psychiatry, University Hospital Charite, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany
    Addict Biol 5:167-72. 2000
    ..52). Our results do not provide evidence that the 861C allele contributes a substantial vulnerability effect to antisocial behavior in German alcohol-dependent subjects...
  4. ncbi request reprint Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12
    Thomas Sander
    Epilepsie Genetik Gruppe, Neurologische Klinik, Universitatsklinikum Charite, Humboldt Universitat zu Berlin, Germany
    Epilepsia 44:32-9. 2003
    ..This study explored the presence of an IGE locus in the chromosomal region 8p12...
  5. ncbi request reprint Genetic variation of the glutamate transporter EAAT2 gene and vulnerability to alcohol dependence
    T Sander
    Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany
    Psychiatr Genet 10:103-7. 2000
    ..009). These two consistent lines of evidence suggest that genetic variation of the EAAT2 gene confers vulnerability to risk-taking behavior in alcoholics...
  6. ncbi request reprint Variation of the genes encoding the human glutamate EAAT2, serotonin and dopamine transporters and Susceptibility to idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Berlin, Germany
    Epilepsy Res 41:75-81. 2000
    ..81, d.f. = 1, P = 0.005) compared with the controls. The present findings strengthen previous evidence that genetic variation of the DAT gene modulates neuronal network excitability and contributes to the epileptogenesis of IAE...
  7. ncbi request reprint Genetic variation of the human mu-opioid receptor and susceptibility to idiopathic absence epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Humboldt University of Berlin, Germany
    Epilepsy Res 39:57-61. 2000
    ..078; chi2 = 5.467, df = 1, P = 0.019; OR = 2.03; 95%-CI: 1.12-3.68]. This allelic association suggests that the functional Asp40 variant of OPRM modulates neuronal excitability underlying the epileptogenesis of IAE...
  8. ncbi request reprint Association analysis of a regulatory promoter polymorphism of the PAX-6 gene with idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Humboldt University Berlin, Germany
    Epilepsy Res 36:61-7. 1999
    ..87). Our results do not provide evidence that length variation of the polymorphic dinucleotide sequence in the PAX-6LPR contributes a frequent and relevant effect to the pathogenesis of common subtypes of IGE...
  9. ncbi request reprint Association analysis of exonic variants of the gene encoding the GABAB receptor and alcohol dependence
    T Sander
    Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Germany
    Psychiatr Genet 9:69-73. 1999
    ..Nevertheless, the hints towards potential allelic associations of the exon 7 and 11 polymorphisms with dissocial alcoholism emphasize further studies to test more defined phenotype-genotype relationships...
  10. ncbi request reprint Association analysis of exonic variants of the gene encoding the GABAB receptor and idiopathic generalized epilepsy
    T Sander
    Department of Neurology, University Hospital Charite, Campus Virchow Clinic, Humboldt University of Berlin, Berlin, Germany
    Am J Med Genet 88:305-10. 1999
    ....
  11. ncbi request reprint Evaluation of a putative major susceptibility locus for juvenile myoclonic epilepsy on chromosome 15q14
    T Sander
    Department of Neurology, University Hospital Rudolf Virchow, Humboldt University of Berlin, Germany
    Am J Med Genet 88:182-7. 1999
    ..If genetic variation in this region confers susceptibility to JME, then its effect size might be too small or its occurrence too rare to be detected in the investigated families...
  12. ncbi request reprint No evidence for a susceptibility locus for idiopathic generalized epilepsy on chromosome 18q21.1
    Thomas Sander
    Epilepsy Genetics Group, Department of Neurology, University Clinic Charite, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Am J Med Genet 114:673-8. 2002
    ..If there is a susceptibility locus for IGE in this region then the size of the effect or the proportion of linked families is too small to detect linkage in the investigated family sample...
  13. ncbi request reprint Association analysis of exonic variants of the GABA(B)-receptor gene and alpha electroencephalogram voltage in normal subjects and alcohol-dependent patients
    Georg Winterer
    Department of Psychiatry, Benjamin Franklin University Hospital, Free University of Berlin, Berlin, Germany
    Behav Genet 33:7-15. 2003
    ....
  14. doi request reprint Ebbinghaus revisited: influences of the BDNF Val66Met polymorphism on backward serial recall are modulated by human aging
    Shu Chen Li
    Max Planck Institute for Human Development, Berlin, Germany
    J Cogn Neurosci 22:2164-73. 2010
    ..Furthermore, the findings are in line with the hypothesis that the magnitude of genetic effects on cognition is greater when brain resources are reduced, as is the case in old age...
  15. ncbi request reprint Association analysis of malic enzyme 2 gene polymorphisms with idiopathic generalized epilepsy
    Kirsten P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Epilepsia 46:1637-41. 2005
    ..The present population-based association study tested whether genetic variation of the ME2 gene confers susceptibility to common IGE syndromes in the German population...
  16. ncbi request reprint Allelic association of a truncation mutation of the KCNMB3 gene with idiopathic generalized epilepsy
    Susanne Lorenz
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Berlin, Germany
    Am J Med Genet B Neuropsychiatr Genet 144:10-3. 2007
    ..36; 95%-CI: 0.85-2.19), when compared with controls. The present results suggest that the functional KCNMB3 beta3b-truncation confers a common epileptogenic effect preferentially to the ictogenesis of typical absence seizures...
  17. doi request reprint Met carriers of BDNF Val66Met genotype show increased N-acetylaspartate concentration in the anterior cingulate cortex
    Jurgen Gallinat
    Department of Psychiatry and Psychotherapy, Charite, University Medicine Berlin, Campus Mitte, Berlin, Germany
    Neuroimage 49:767-71. 2010
    ..We hypothesize that higher NAA levels in the ACC might contribute to the protection of Met allele carriers against major psychiatric disorders as schizophrenia and bipolar disorder...
  18. ncbi request reprint Exploration of the genetic architecture of idiopathic generalized epilepsies
    Anne Hempelmann
    Gene Mapping Center, Max Delbruck Center, Berlin, Germany
    Epilepsia 47:1682-90. 2006
    ..The objective of the present study was to explore the genetic architecture of common IGE syndromes and to dissect out susceptibility loci predisposing to absence or myoclonic seizures...
  19. doi request reprint Glutamatergic gene variants impact the clinical profile of efficacy and side effects of haloperidol
    Ina Giegling
    Department of Psychiatry, Ludwig Maximilians University, Munich, Germany
    Pharmacogenet Genomics 21:206-16. 2011
    ..The glutamatergic system may be relevant to the pathophysiology of psychosis and to the effects of antipsychotic treatments...
  20. ncbi request reprint Allelic variants of the functional promoter polymorphism of the human serotonin transporter gene is associated with auditory cortical stimulus processing
    Jurgen Gallinat
    Department of Psychiatry, Free University of Berlin, Eschenallee 3, 14050 Berlin, Germany
    Neuropsychopharmacology 28:530-2. 2003
    ..The LD may serve as endophenotype in human serotonin research...
  21. ncbi request reprint Confirmation of association of the GABRA2 gene with alcohol dependence by subtype-specific analysis
    Christoph Fehr
    Department of Psychiatry, University of Mainz, 55131 Mainz, Germany
    Psychiatr Genet 16:9-17. 2006
    ..The present study examined whether variation of the GABRA2 gene confers susceptibility to different subtypes of alcohol dependence in the German population...
  22. doi request reprint Serotonin transporter promoter polymorphism and dopaminergic sensitivity in alcoholics
    Henning Budde
    Department of Movement and Training Science, Institute of Sport Science, Humboldt University, Philippstrasse 13, 10115, Berlin, Germany
    J Neural Transm 117:133-8. 2010
    ..It is hypothesized that the reduction of sensitivity of the central DA receptors in alcoholics with the L/L genotype might be due to their higher vulnerability to the neurotoxic effects of chronic alcohol consumption than the S carriers...
  23. ncbi request reprint Association of the 867Asp variant of the human anion exchanger 3 gene with common subtypes of idiopathic generalized epilepsy
    Thomas Sander
    Department of Neurology, Epilepsy Genetics Group, University Clinic Charite, Humboldt University of Berlin, Augustenburger Platz 1, 13353 Berlin, Germany
    Epilepsy Res 51:249-55. 2002
    ..81, df=1, P=0.016). Our results support the hypothesis that variation of the AE3 gene confers a common but small susceptibility effect to the etiology of a broad spectrum of IGE syndromes...
  24. doi request reprint COMT Val108/158Met genotype modulates human sensory gating
    Tomislav Majic
    Clinic for Psychiatry and Psychotherapy, Charite University Medicine, Campus Mitte, Berlin, Germany
    Neuroimage 55:818-24. 2011
    ..It is however unclear if COMT genotype as a predictor of prefrontal efficiency modulates sensory gating on the level of the auditory cortex, i.e. the gating of the auditory evoked P50 and N100 components...
  25. ncbi request reprint Association of EEG coherence and an exonic GABA(B)R1 gene polymorphism
    Georg Winterer
    Department of Psychiatry, University Hospital Benjamin Franklin, Free University of Berlin, Berlin, Germany
    Am J Med Genet B Neuropsychiatr Genet 117:51-6. 2003
    ..Since variations of EEG coherence have been described for several neuropsychiatric disorders, the present association should be tested in clinical samples using EEG coherence as an intermediate phenotype...
  26. pmc Executive attention in schizophrenic males and the impact of COMT Val108/158Met genotype on performance on the attention network test
    Carolin Opgen-Rhein
    Department of Psychiatry and Psychotherapy, Charite University Medicine Berlin, Campus Benjamin Franklin, Berlin, Germany
    Schizophr Bull 34:1231-9. 2008
    ..Therefore, we aimed at investigating executive attention in schizophrenic patients (SZP) as compared with healthy controls (HC), and to assess the specific impact of COMT Val108/158Met on executive attention, using ANT...
  27. ncbi request reprint Association of the G1947A COMT (Val(108/158)Met) gene polymorphism with prefrontal P300 during information processing
    Jurgen Gallinat
    Laboratory for Clinical Psychophysiology, Department of Psychiatry, Free University, Berlin, Germany and National Institute of Mental Health, National Institutes of Health, Bethesda, Maryland, USA
    Biol Psychiatry 54:40-8. 2003
    ..It was predicted that homozygous Met allele carriers have a lower frontal P300 amplitude...
  28. ncbi request reprint Association of attentional network function with exon 5 variations of the CHRNA4 gene
    Georg Winterer
    Department of Psychiatry, Henirich Heine University, Duesseldorf, Germany
    Hum Mol Genet 16:2165-74. 2007
    ..If confirmed, future studies need to address what 'functional' polymorphisms are causative for the observed effects...
  29. doi request reprint KIBRA and CLSTN2 polymorphisms exert interactive effects on human episodic memory
    Claudia Preuschhof
    Max Planck Institute for Human Development, Berlin, Germany
    Neuropsychologia 48:402-8. 2010
    ..Overall, these findings suggest that KIBRA and CLSTN2 interactively modulate episodic memory performance, and underscore the need for delineating the interactive effects of multiple genes on brain and behavior...
  30. doi request reprint Catechol-O-methyltransferase val158met genotype influences neural processing of reward anticipation
    Katharina Schmack
    Department of Psychiatry, Charite University Medicine, Chariteplatz 1, 10117 Berlin, Germany
    Neuroimage 42:1631-8. 2008
    ..Current evidence and our results are compatible with an interpretation that construes this effect of COMT genotype on striatal reactivity as a result of a cortico-striatal interaction...
  31. doi request reprint Lack of association between 71 variations located in candidate genes and response to acute haloperidol treatment
    Ina Giegling
    Department of Psychiatry, Ludwig Maximilians University, Munich, Germany
    Psychopharmacology (Berl) 214:719-28. 2011
    ..The antipsychotic pharmacological treatment effectiveness and side effects are at least partially driven by the genetic personal background...
  32. ncbi request reprint Association of a functional BDNF polymorphism and anxiety-related personality traits
    Undine E Lang
    Department of Neurology, University of Tuebingen, Hoppe Seyler Str 3, 72076 Tuebingen, Germany
    Psychopharmacology (Berl) 180:95-9. 2005
    ..The association to anxiety-related traits has not been investigated so far...
  33. ncbi request reprint Myofibrillogenesis regulator 1 gene (MR-1) mutation in an Omani family with paroxysmal nonkinesigenic dyskinesia
    Anne Hempelmann
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Department of Neurology, Charite University Medicine, Berlin, Germany, and Department of Neurology, The Royal Hospital, Muscat, Oman
    Neurosci Lett 402:118-20. 2006
    ....
  34. ncbi request reprint Gender-dependent association of the functional catechol-O-methyltransferase Val158Met genotype with sensation seeking personality trait
    Undine E Lang
    Department of Psychiatry and Psychotherapy, University Hospital Carl Gustav Carus, Fetscherstrasse 74, 01307 Dresden, Germany
    Neuropsychopharmacology 32:1950-5. 2007
    ....
  35. ncbi request reprint No association between common variations in the human alpha 2 subunit gene (ATP1A2) of the sodium-potassium-transporting ATPase and idiopathic generalized epilepsy
    Falk W Lohoff
    Department of Psychiatry, University of Pennsylvania School of Medicine, Center for Neurobiology and Behavior, 3535 Market Street, 2nd Floor, R2070, Philadelphia, PA 19104, USA
    Neurosci Lett 382:33-8. 2005
    ..Linkage disequilibrium was demonstrated throughout the gene. Results suggest that the polymorphisms we studied in the ATP1A2 gene do not represent major susceptibility factors for common forms of IGE...
  36. ncbi request reprint A multicenter study of BRD2 as a risk factor for juvenile myoclonic epilepsy
    Gianpiero L Cavalleri
    The Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Dublin, Ireland
    Epilepsia 48:706-12. 2007
    ..Here we examine the association between the candidate causal SNP (the promoter variant rs3918149) and JME in five independent cohorts comprising in total 531 JME cases and 1,390 healthy controls...
  37. ncbi request reprint Linkage and mutational analysis of CLCN2 in childhood absence epilepsy
    Kate Everett
    General and Adolescent Paediatric Unit, Centre for Human Molecular Genetics, UCL Institute Child Health, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Epilepsy Res 75:145-53. 2007
    ..We conclude that CLCN2 may be a susceptibility locus in a subset of cases of childhood absence epilepsy...
  38. pmc Mutation analysis of the hyperpolarization-activated cyclic nucleotide-gated channels HCN1 and HCN2 in idiopathic generalized epilepsy
    Bin Tang
    Department of Human Genetics, Emory University, 615 Michael Street, Whitehead Building, Suite 301, Atlanta, GA 30322, USA
    Neurobiol Dis 29:59-70. 2008
    ..Further studies are warranted to more clearly establish the contribution of HCN1 and HCN2 dysfunction to the genetic variance of common IGE syndromes...
  39. ncbi request reprint Candidate gene analysis of the human metabotropic glutamate receptor type 4 (GRM4) in patients with juvenile myoclonic epilepsy
    Claudia Izzi
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnologies, Brescia University Medical School, Brescia, Italy
    Am J Med Genet B Neuropsychiatr Genet 123:59-63. 2003
    ..86). Our results provide no evidence that genetic variation of the GRM4 gene confers susceptibility to JME-related IGE syndromes...
  40. doi request reprint Association between variation in the vesicular monoamine transporter 1 gene on chromosome 8p and anxiety-related personality traits
    Falk W Lohoff
    Center for Neurobiology and Behavior, University of Pennsylvania, USA
    Neurosci Lett 434:41-5. 2008
    ..408, p=0.0004; STAI trait: Thr/Ile vs. Ile/Ile: T=3.074, p=0.009) but not in the male group. Our findings support the hypothesis that anxiety-related personality traits are associated with variation in the VMAT1/SLC18A1 gene...
  41. ncbi request reprint Polymorphisms in the NMDA subunit 2B are not associated with alcohol dependence and alcohol withdrawal-induced seizures and delirium tremens
    Andre Tadic
    Dept of Psychiatry, University of Mainz, 55131 Mainz, Germany
    Eur Arch Psychiatry Clin Neurosci 255:129-35. 2005
    ..Moreover, we hypothesized that another genetic variation within GRIN2B (rs1806191) may have an effect in the etiology of alcoholism or withdrawal-related traits...
  42. ncbi request reprint Genotypic association of exonic LGI4 polymorphisms and childhood absence epilepsy
    Wenli Gu
    Institute of Human Genetics, Rheinische Friedrich Wilhelms University, University Hospital Bonn, Germany
    Neurogenetics 5:41-4. 2004
    ..1914GC --> AT polymorphism in 42 CAE patients compared with 110 population controls (chi2 = 6.66, df = 1, P = 0.01), providing evidence for a so far undetected susceptibility allele for CAE in the LGI4 region...
  43. ncbi request reprint A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions
    Colette Kananura
    Institute of Human Genetics, University Hospital Bonn, Rheinische Friedrich Wilhelms University Bonn, Germany
    Arch Neurol 59:1137-41. 2002
    ..In one of these families, the affected individuals predominantly exhibited childhood absence epilepsy and febrile convulsions...
  44. ncbi request reprint Sequencing of the GRIK1 gene in patients with juvenile absence epilepsy does not reveal mutations affecting receptor structure
    Claudia Izzi
    Division of Biology and Genetics, Department of Biomedical Sciences and Biotechnologies, Brescia University Medical School, Brescia, Italy
    Am J Med Genet 114:354-9. 2002
    ..The results presented indicate that mutations in the coding sequences, in the intron-exon boundaries and in the main regulatory regions of the GRIK1 are not commonly involved in the etiology of JAE...
  45. ncbi request reprint Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q
    Robert Robinson
    Department of Paediatrics, Royal Free and University College Medical School, University College London, 5 University Street, WC1E 6JJ, London, UK
    Epilepsy Res 48:169-79. 2002
    ..1 and the GABRA5, GABRB3, GABRG3 cluster on chromosome 15q11-q13. Association studies are required to determine whether these loci are the site of susceptibility alleles in a subset of patients with CAE...
  46. pmc Linkage and association analysis of CACNG3 in childhood absence epilepsy
    Kate V Everett
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, London, UK
    Eur J Hum Genet 15:463-72. 2007
    ..No coding sequence variants were identified, although four variants are predicted to affect exonic splicing. This evidence supports CACNG3 as a susceptibility locus in a subset of CAE patients...
  47. ncbi request reprint Lack of evidence of an allelic association of a functional GABRB3 exon 1a promoter polymorphism with idiopathic generalized epilepsy
    Anne Hempelmann
    Max Delbruck Center for Molecular Medicine, Robert Rössle Street 10, 13125 Berlin, Germany
    Epilepsy Res 74:28-32. 2007
    ..The present population-based association study tested whether the C-allele of rs4906902 confers susceptibility to CAE or other common syndromes of idiopathic generalized epilepsy (IGE) in a German sample...
  48. ncbi request reprint Association of BRD2 polymorphisms with photoparoxysmal response
    Susanne Lorenz
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Neurosci Lett 400:135-9. 2006
    ..0075-0.035). Considering the strong neurobiological association of JME and PPR, the present results support evidence that PPR and JME share epileptogenic pathways, for which BRD2 might be an underlying susceptibility gene...
  49. ncbi request reprint Evaluation of CACNA1H in European patients with childhood absence epilepsy
    Barry Chioza
    Department of Paediatrics and Child Health, Royal Free and University College Medical School, University College London, The Rayne Building, 5 University Street, London WC1E 6JJ, UK
    Epilepsy Res 69:177-81. 2006
    ..Linkage analysis of 44 pedigrees provided no evidence for a locus in the CACNA1H region and none of the Chinese variants were found in 220 unrelated patients...
  50. ncbi request reprint Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy and photosensitivity
    Susanne Lorenz
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Neurosci Lett 397:234-9. 2006
    ....
  51. ncbi request reprint Association of CYP2D6 genotypes and personality traits in healthy individuals
    Julia Kirchheiner
    J Clin Psychopharmacol 26:440-2. 2006
  52. ncbi request reprint Migrainous vertigo: mutation analysis of the candidate genes CACNA1A, ATP1A2, SCN1A, and CACNB4
    Michael von Brevern
    Department of Human Genetics, Emory University, Atlanta, Georgia 30322, USA
    Headache 46:1136-41. 2006
    ..The present study explored the hypothesis that mutations in CACNA1A, ATP1A2, SCN1A, and the calcium channel beta(4) subunit CACNB4 confer susceptibility to MV...
  53. ncbi request reprint Confirmatory evidence for an association of the connexin-36 gene with juvenile myoclonic epilepsy
    Anne Hempelmann
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Epilepsy Res 71:223-8. 2006
    ..4%) in the JME patients compared to controls (8.7%; P=0.019, one-tailed; OR(T/T+)=1.62; 95%-CI: 1.02-2.57). The present results provide confirmatory evidence for an allelic and genotypic association of the CX36 gene with JME...
  54. ncbi request reprint The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits
    Daniel Bertrand
    Department of Neurosciences, Medical Faculty, CMU, 1211 Geneva 4, Switzerland
    Neurobiol Dis 20:799-804. 2005
    ..Phenotypically, the mutation is associated not only with typical ADNFLE, but also with distinct deficits in memory. The cognitive problems are most obvious in tasks requiring the organization and storage of verbal information...
  55. pmc Variations in the vesicular monoamine transporter 1 gene (VMAT1/SLC18A1) are associated with bipolar i disorder
    Falk W Lohoff
    Department of Psychiatry, University of Pennsylvania, Philadelphia, PA 19104, USA
    Neuropsychopharmacology 31:2739-47. 2006
    ..Additional studies are necessary to confirm this effect and to elucidate the role of VMAT1 in central nervous system physiology...
  56. ncbi request reprint Association analysis of the Arg220His variation of the human gene encoding the GABA delta subunit with idiopathic generalized epilepsy
    Kirsten P Lenzen
    Gene Mapping Center, Max Delbruck Center for Molecular Medicine, Robert Rossle Str 10, 13125 Berlin, Germany
    Epilepsy Res 65:53-7. 2005
    ..The present association study tested whether the functional GABRD His220 allele confers susceptibility to common syndromes of idiopathic generalized epilepsy (IGE)...
  57. ncbi request reprint A new EF-hand containing gene EFHC2 on Xp11.4: tentative evidence for association with juvenile myoclonic epilepsy
    Wenli Gu
    Institute of Human Genetics, University Hospital, Ludwig Maximillians University, Goethestr 29, D 80336 Munich, Germany
    Epilepsy Res 66:91-8. 2005
    ..Independent replication studies are needed to further analyse the tentative association described here...
  58. ncbi request reprint Association of the met66 allele of brain-derived neurotrophic factor (BDNF) with smoking
    Undine E Lang
    Department of Psychiatry and Psychotherapy, University of Dresden, Fetscherstr 74, 01307, Dresden, Germany
    Psychopharmacology (Berl) 190:433-9. 2007
    ..In this study, we addressed the question if a common BDNF missense variation (Val66Met) influences the risk for smoking behavior in otherwise healthy human volunteers...
  59. ncbi request reprint Tandem pore domain K(+)-channel TASK-3 (KCNK9) and idiopathic absence epilepsies
    Colette Kananura
    Institute of Human Genetics, University Hospital, Rheinische Friedrich Wilhelms University of Bonn, Bonn, Germany
    Am J Med Genet 114:227-9. 2002
    ..Accordingly, genetic variation of the TASK-3 coding region does not play a major role in the etiology of idiopathic absence epilepsies...
  60. ncbi request reprint Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies
    Karsten Haug
    Institut fur Humangenetik, Universitatsklinikum Bonn, Wilhelmstr 31, 53111 Bonn, Germany
    Nat Genet 33:527-32. 2003
    ..G715E alters voltage-dependent gating, which may cause membrane depolarization and hyperexcitability...
  61. ncbi request reprint Genetic variations of the NR3A subunit of the NMDA receptor modulate prefrontal cerebral activity in humans
    Jurgen Gallinat
    Klinik für Psychiatrie and Psychotherapie, Charite Universitatsmedizin, Berlin
    J Cogn Neurosci 19:59-68. 2007
    ..Because the NR3A is expressed in the human prefrontal cortex, we hypothesized that genetic variations of the NR3A subunit modulate prefrontal activation...
  62. ncbi request reprint Mutation analysis of the ryanodine receptor gene isoform 3 (RYR3) in recurrent neuroleptic malignant syndrome
    Michael Dettling
    J Clin Psychopharmacol 24:471-3. 2004
  63. ncbi request reprint Genetic dissection of photosensitivity and its relation to idiopathic generalized epilepsy
    Ulrike Tauer
    Clinic for Neuropaediatrics, University Clinics Schleswig Holstein, Campus Kiel, Kiel, Germany
    Ann Neurol 57:866-73. 2005
    ..Our study shows two PPR-related susceptibility loci, depending on the familial background of IGE. The locus on 6p21.2 seems to predispose to PPR itself, whereas the locus on 13q31.3 also confers susceptibility to IGE...
  64. pmc Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice
    Natalia T Leach
    Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women s Hospital and Harvard Medical School, Boston, MA 02115, USA
    Am J Hum Genet 80:792-9. 2007
    ..These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures...
  65. ncbi request reprint Neonatal seizures with tonic clonic sequences and poor developmental outcome
    Bernhard Schmitt
    University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Epilepsy Res 65:161-8. 2005
    ....