Length variation of a polyglutamine array in the gene encoding a small-conductance, calcium-activated potassium channel (hKCa3) and susceptibility to idiopathic generalized epilepsyT 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
..78) or IAE patients (P > 0.87). 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...
- 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...
- 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
....
- 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...
- 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
....
- 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...
Ebbinghaus revisited: influences of the BDNF Val66Met polymorphism on backward serial recall are modulated by human agingShu 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
Executive attention in schizophrenic males and the impact of COMT Val108/158Met genotype on performance on the attention network testCarolin 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...
- 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...
- Exploration of the genetic architecture of idiopathic generalized epilepsies
Anne Hempelmann
Gene Mapping Center, , Berlin, Germany
Epilepsia 47:1682-90. 2006
..Genetic determinants on 11q13 and 13q22-q31 seem to predispose preferentially to absence seizures, whereas loci on 5q34, 6p12, and 19q13 confer susceptibility to myoclonic and generalized tonic-clonic seizures on awakening...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
....
- 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
....
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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...
- 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
....
- Association of CYP2D6 genotypes and personality traits in healthy individuals
Julia Kirchheiner
J Clin Psychopharmacol 26:440-2. 2006
- 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...
- 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...
- 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...
- 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...
- 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)...
- 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...
- 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...
- 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...
- 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...
- 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...
- Mutation analysis of the ryanodine receptor gene isoform 3 (RYR3) in recurrent neuroleptic malignant syndrome
Michael Dettling
J Clin Psychopharmacol 24:471-3. 2004
- 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...
- 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...
- 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
....
