Sanjay Sisodiya

Summary

Affiliation: University College London
Country: UK

Publications

  1. ncbi request reprint Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy
    Nicole Soranzo
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, UK
    Epilepsia 48:674-83. 2007
  2. pmc PROPELLER MRI visualizes detailed pathology of hippocampal sclerosis
    Sofia H Eriksson
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK
    Epilepsia 49:33-9. 2008
  3. doi request reprint Genetic contribution to common epilepsies
    Sanjay M Sisodiya
    The Epilepsy Society, Chalfont St Peter, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Curr Opin Neurol 24:140-5. 2011
  4. ncbi request reprint Major vault protein, a marker of drug resistance, is upregulated in refractory epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, England
    Epilepsia 44:1388-96. 2003
  5. ncbi request reprint Surgery for focal cortical dysplasia
    S M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK
    Brain 127:2383-4. 2004
  6. ncbi request reprint Role of SOX2 mutations in human hippocampal malformations and epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK
    Epilepsia 47:534-42. 2006
  7. ncbi request reprint Genetics of drug resistance in epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery, Box 29, Queen Square, London WC1N 3BG, United Kingdom
    Curr Neurol Neurosci Rep 5:307-11. 2005
  8. ncbi request reprint Genetics of drug resistance
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, Queen Square, London, United Kingdom
    Epilepsia 46:33-8. 2005
  9. ncbi request reprint Vascular colocalization of P-glycoprotein, multidrug-resistance associated protein 1, breast cancer resistance protein and major vault protein in human epileptogenic pathologies
    S M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London WC1N 3BG, UK
    Neuropathol Appl Neurobiol 32:51-63. 2006
  10. doi request reprint Genetics of antiepileptic drug resistance
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
    Curr Opin Neurol 22:150-6. 2009

Detail Information

Publications82

  1. ncbi request reprint Lack of support for a role for RLIP76 (RALBP1) in response to treatment or predisposition to epilepsy
    Nicole Soranzo
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, UK
    Epilepsia 48:674-83. 2007
    ..Knowledge of which transporters may be critical in drug resistance is important for design of potential therapies. We tested the hypothesis that RLIP76 mediates AED resistance using methods complementary to those in the original report...
  2. pmc PROPELLER MRI visualizes detailed pathology of hippocampal sclerosis
    Sofia H Eriksson
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK
    Epilepsia 49:33-9. 2008
    ..The aim of the current report was to explore PROPELLER image quality of the hippocampus compared to routine sequences...
  3. doi request reprint Genetic contribution to common epilepsies
    Sanjay M Sisodiya
    The Epilepsy Society, Chalfont St Peter, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Curr Opin Neurol 24:140-5. 2011
    ..We review key findings over the past year in the genetics of the common epilepsies and consider their impact on the field...
  4. ncbi request reprint Major vault protein, a marker of drug resistance, is upregulated in refractory epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, England
    Epilepsia 44:1388-96. 2003
    ..Other proteins associated with resistance in cancer include major vault protein (MVP) and breast cancer resistance protein (BCRP). We hypothesized that these proteins would also be upregulated in human epileptogenic pathologies...
  5. ncbi request reprint Surgery for focal cortical dysplasia
    S M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, Queen Square, London WC1N 3BG, UK
    Brain 127:2383-4. 2004
  6. ncbi request reprint Role of SOX2 mutations in human hippocampal malformations and epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, London, and National Society for Epilepsy, Bucks SL90RJ, London, UK
    Epilepsia 47:534-42. 2006
    ..We wished to determine the underlying cerebral phenotype in SOX2 mutation and to test the candidacy of SOX2 as a gene contributing to human epilepsies...
  7. ncbi request reprint Genetics of drug resistance in epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, National Hospital for Neurology and Neurosurgery, Box 29, Queen Square, London WC1N 3BG, United Kingdom
    Curr Neurol Neurosci Rep 5:307-11. 2005
    ..Much work remains to be done, but the scene is set for exciting developments that will hold therapeutic potential for patients with drug-resistant epilepsy...
  8. ncbi request reprint Genetics of drug resistance
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, UCL, Queen Square, London, United Kingdom
    Epilepsia 46:33-8. 2005
    ..Despite this apparently uninspiring record, the genetics of drug resistance are likely to prove productive in the near future, but their pursuit will require painstaking studies and multicenter collaboration...
  9. ncbi request reprint Vascular colocalization of P-glycoprotein, multidrug-resistance associated protein 1, breast cancer resistance protein and major vault protein in human epileptogenic pathologies
    S M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London WC1N 3BG, UK
    Neuropathol Appl Neurobiol 32:51-63. 2006
    ....
  10. doi request reprint Genetics of antiepileptic drug resistance
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
    Curr Opin Neurol 22:150-6. 2009
    ..Mechanisms underlying drug resistance need to be understood to develop rational therapies. Genetics offers one route to better understanding, and thus potentially treating, drug resistance...
  11. pmc Genetic enhancement of cognition in a kindred with cone-rod dystrophy due to RIMS1 mutation
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    J Med Genet 44:373-80. 2007
    ..RIMS1 encodes a synapse active-zone protein with important roles in the maintenance of normal synaptic function: mice lacking this protein have greatly reduced learning ability and memory function...
  12. doi request reprint Brain structure, function, and genetics revealed by studies of the eye and face
    Sanjay Sisodiya
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK
    Curr Opin Neurol 21:404-9. 2008
    ..The intimate connections between brain and face, and brain and eye, have been utilized to access brain structure and function. Concepts and recent progress are reviewed here...
  13. ncbi request reprint Focal cortical dysplasia type II: biological features and clinical perspectives
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, UK
    Lancet Neurol 8:830-43. 2009
    ....
  14. ncbi request reprint Drug resistance in epilepsy: not futile, but complex?
    Sanjay Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, Queen Square, WC1N 3BG, London, UK
    Lancet Neurol 2:331. 2003
  15. ncbi request reprint Bilateral periventricular and subcortical heterotopia in a man with refractory epilepsy
    S M Sisodiya
    University Department of Clinical Neurology, Institute of Neurology, University College London, England
    Epilepsia 41:352-4. 2000
    ..To report a novel malformation in a male subject with refractory partial seizures...
  16. ncbi request reprint Widespread upregulation of drug-resistance proteins in fatal human status epilepticus
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, England
    Epilepsia 44:261-4. 2003
    ..We wished to determine if status epilepticus might cause upregulation of these proteins...
  17. ncbi request reprint Drug resistance in epilepsy: expression of drug resistance proteins in common causes of refractory epilepsy
    S M Sisodiya
    Epilepsy Research Group, University Department of Clinical Neurology, University College London, London, UK
    Brain 125:22-31. 2002
    ..We propose that overexpressed resistance proteins lower the interstitial concentration of AEDs in the vicinity of the epileptogenic pathology and thereby render the epilepsy caused by these pathologies resistant to treatment with AEDs...
  18. ncbi request reprint Abnormal expression of cdk5 in focal cortical dysplasia in humans
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Neurosci Lett 328:217-20. 2002
    ..Here we examine eight cases of human FCD for expression of cdk5. We show abnormal cdk5 immunoreactivity and aggregation of protein suggesting alterations in cdk5 may also be involved in this important epileptogenic human pathology...
  19. ncbi request reprint Malformations of cortical development: burdens and insights from important causes of human epilepsy
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, UK
    Lancet Neurol 3:29-38. 2004
    ..Clinical and imaging features, genetic aetiologies, treatments, and the insights that have resulted from MCD study are covered. The burden of epilepsy due to MCD is significant and there is still much to learn about MCD...
  20. ncbi request reprint PAX6 haploinsufficiency causes cerebral malformation and olfactory dysfunction in humans
    S M Sisodiya
    Epilepsy Research Group, University Department of Clinical Neurology, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Nat Genet 28:214-6. 2001
    ....
  21. ncbi request reprint Mechanisms of antiepileptic drug resistance
    Sanjay M Sisodiya
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Curr Opin Neurol 16:197-201. 2003
    ..The present review considers new developments in the study and our understanding of resistance to treatment with antiepileptic drugs in epilepsy...
  22. ncbi request reprint Surgery for malformations of cortical development causing epilepsy
    S M Sisodiya
    Epilepsy Research Group, Institute of Neurology, University College London, UK
    Brain 123:1075-91. 2000
    ..Of paramount importance is improved reporting. The establishment of a central registry may facilitate this aim. Specific recommendations are made for surgical strategies based on current experience and understanding...
  23. ncbi request reprint Failure to replicate previously reported genetic associations with sporadic temporal lobe epilepsy: where to from here?
    Gianpiero L Cavalleri
    Department of Biology, Institute of Neurology, University College London, London, UK
    Brain 128:1832-40. 2005
    ..In TLE, it appears that collaboration before publication is the best option to increase sample size sufficiently in the short term. These general principles are applicable to other studies undertaken for common complex diseases...
  24. ncbi request reprint Quantitative post-mortem study of the hippocampus in chronic epilepsy: seizures do not inevitably cause neuronal loss
    Maria Thom
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College, London, UK
    Brain 128:1344-57. 2005
    ..In conclusion, seizures do not invariably lead to hippocampal injury and white matter heterotopia is not invariably associated with hippocampal sclerosis...
  25. ncbi request reprint Cytoarchitectural abnormalities in hippocampal sclerosis
    Maria Thom
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College of London, United Kingdom
    J Neuropathol Exp Neurol 61:510-9. 2002
    ..Although a role for Cajal-Retzius cells is therefore not implicated in the mechanism of granule cell disorganization, their excess number may be indicative of underlying hippocampal maldevelopment in HS...
  26. ncbi request reprint Deficient auditory interhemispheric transfer in patients with PAX6 mutations
    Doris Eva Bamiou
    Neuro Otology Department, National Hospital for Neurology and Neurosurgery, London, United Kingdom
    Ann Neurol 56:503-9. 2004
    ..Our unique findings broaden the possible functions of PAX6 to include neurodevelopmental roles in higher order auditory processing...
  27. pmc Identifying candidate causal variants responsible for altered activity of the ABCB1 multidrug resistance gene
    Nicole Soranzo
    Department of Biology, University College London, London WC1E 6BT, United Kingdom
    Genome Res 14:1333-44. 2004
    ..Finally, we describe a set of six haplotype tagging single-nucleotide polymorphisms that represent common ABCB1 variation surrounding 3435C>T in Europeans...
  28. ncbi request reprint Auditory and verbal working memory deficits in a child with congenital aniridia due to a PAX6 mutation
    Doris Eva Bamiou
    Academic Unit of Audiological Medicine, Institute of Child Health UCL, London, UK
    Int J Audiol 46:196-202. 2007
    ..This is the first report of central auditory and verbal working memory deficits in a child with a PAX6 mutation. Further research is needed to assess how these deficits impact on academic performance particularly in childhood...
  29. ncbi request reprint Deregulation of cdk5 in Hippocampal sclerosis
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, The Institute of Neurology, University College London, Queen Square, London, U K
    J Neuropathol Exp Neurol 65:55-66. 2006
    ..Our results suggest that p25 is pathologically increased in HS and that deregulation of cdk5 by p25 might contribute to neuronal death in this condition...
  30. ncbi request reprint Multidrug resistance in epilepsy: a pharmacogenomic update
    Sarah K Tate
    University College London, Department of Clinical and Experimental Epilepsy, Institute of Neurology, Queen Square, London, UK
    Expert Opin Pharmacother 8:1441-9. 2007
    ..Lessons learnt from the ABCB1 studies can help guide future association genetics studies, both for multidrug resistance in epilepsy, and for other epilepsy phenotypes...
  31. ncbi request reprint Auditory interhemispheric transfer deficits, hearing difficulties, and brain magnetic resonance imaging abnormalities in children with congenital aniridia due to PAX6 mutations
    Doris Eva Bamiou
    Academic Unit of Audiological Medicine, Institute of Child Health, Department of Clinical and Experimental Epilepsy, and Division of Inherited Eye Disease, and Moorfields Eye Hospital, University College London, UK
    Arch Pediatr Adolesc Med 161:463-9. 2007
    ..To assess auditory processing, hearing difficulties, and brain magnetic resonance (MR) imaging abnormalities in children with panocular developmental aniridia due to PAX6 mutations...
  32. ncbi request reprint Increased NKCC1 expression in refractory human epilepsy
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    Epilepsy Res 74:220-7. 2007
    ..Our results suggest that NKCC1 might contribute to the pathogenesis or pathophysiology of HS and FCD, thereby potentially offering a new therapeutic target in the treatment of pharmacoresistant epilepsy...
  33. ncbi request reprint Adult epilepsy
    John S Duncan
    Department of Clinical and Experimental Epilepsy, Institute of Neurology UCL, Queen Square, London WC1N 3BG, UK
    Lancet 367:1087-100. 2006
    ..Potential new treatments include precise prediction of seizures and focal therapy with drug delivery, neural stimulation, and biological grafts...
  34. ncbi request reprint Reliability of patterns of hippocampal sclerosis as predictors of postsurgical outcome
    Maria Thom
    Divisions of Neuropathology and Neurology, Department of Clinical and Experimental Epilepsy, University College London, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, U K
    Epilepsia 51:1801-8. 2010
    ..Atypical patterns of HS may be associated with poorer outcomes. Our aim was to identify atypical HS cases from a large surgical series and to correlate pathology with clinical and outcome data...
  35. ncbi request reprint Increased immunoreactivity of cdk5 activators in hippocampal sclerosis
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, Division of Neuropathology, Institute of Neurology, University College London, UK
    Neuroreport 18:511-6. 2007
    ..Our findings suggest that deregulation of cyclin-dependent kinase 5 might contribute to the pathogenesis of hippocampal sclerosis...
  36. ncbi request reprint Immunolabeling recovery in archival, post-mortem, human brain tissue using modified antigen retrieval and the catalyzed signal amplification system
    Joan Y W Liu
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, 33 Queen Square, London WC1N 3BG, UK
    J Neurosci Methods 190:49-56. 2010
    ..Importantly, this study provides a method of overcoming formalin-masking of antigens in long-fixed human tissue, thus allowing essential immunohistochemical studies to be undertaken using precious human tissue...
  37. ncbi request reprint An investigation of the expression of G1-phase cell cycle proteins in focal cortical dysplasia type IIB
    Maria Thom
    Department of Clinical and Experimental Epilepsy, Division of Neuropathology, Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    J Neuropathol Exp Neurol 66:1045-55. 2007
    ..These findings also suggest that dysregulation of cell cycle pathways may occur in focal cortical dysplasia, which opens further areas for exploration as potential new treatment avenues...
  38. ncbi request reprint The potential role of cyclin-dependent kinase 5 in focal cortical dysplasia
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, University College London, London, UK
    Dev Neurosci 30:96-104. 2008
    ....
  39. pmc Cortical neuronal loss and hippocampal sclerosis are not detected by voxel-based morphometry in individual epilepsy surgery patients
    Sofia H Eriksson
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London WC1N3BG, United Kingdom
    Hum Brain Mapp 30:3351-60. 2009
    ..This suggests that the methodology may currently not be suitable to detect particular occult abnormalities possibly associated with seizure onset zone in individual epilepsy patients with unremarkable standard structural MRI...
  40. ncbi request reprint A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes
    Faisal Idrees
    Developmental Biology Unit, Institute of Child Health and Great Ormond Street Hospital for Children NHS Trust, University College London, London, United Kingdom
    Am J Med Genet B Neuropsychiatr Genet 141:184-91. 2006
    ..Based on the distinctive dental anomalies, we suggest that the dental phenotype can assist in predicting the presence of a PITX2 mutation and the possibility of brain abnormalities...
  41. ncbi request reprint Quantitative MR image analysis in subjects with defects in the PAX6 gene
    Samantha L Free
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WCIN 3BG, UK
    Neuroimage 20:2281-90. 2003
    ..Structural differences were also identified between the two largest genotype mutation subgroups...
  42. ncbi request reprint Cell proliferation and granule cell dispersion in human hippocampal sclerosis
    Maria Thom
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK
    J Neuropathol Exp Neurol 64:194-201. 2005
    ..These findings support the view that GCD may be a phenomenon related to increased progenitor cell proliferation in patients with hippocampal damage and chronic epilepsy...
  43. pmc Genetic predictors of the maximum doses patients receive during clinical use of the anti-epileptic drugs carbamazepine and phenytoin
    Sarah K Tate
    Department of Biology, University College London, Darwin Building, Gower Street, London WC1E 6BT, United Kingdom
    Proc Natl Acad Sci U S A 102:5507-12. 2005
    ..Although the case made here is compelling, our results cannot be considered definitive or ready for clinical application until they are confirmed by independent replication...
  44. pmc Temporal lobe sclerosis associated with hippocampal sclerosis in temporal lobe epilepsy: neuropathological features
    Maria Thom
    Division of Neuropathology, Department of Clinical and Experimental Epilepsy, UCL, Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom
    J Neuropathol Exp Neurol 68:928-38. 2009
    ..Temporal lobe sclerosis is likely an acquired process with accompanying reorganizational dysplasia and an extension of mesial temporal sclerosis rather than a separate pathological entity...
  45. ncbi request reprint Distribution of cortical interneurons in grey matter heterotopia in patients with epilepsy
    Maria Thom
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom
    Epilepsia 45:916-23. 2004
    ..We aimed to identify the subtypes and localisation of interneurons within grey matter heterotopia relative to cortex...
  46. ncbi request reprint Pharmacogenetics goes genomic
    David B Goldstein
    Department of Biology Galton Laboratory, University College London, The Darwin Building, Gower Street, London WC1E 6BT, UK
    Nat Rev Genet 4:937-47. 2003
    ..It seems increasingly likely that investment in this field might be the most effective strategy for rapidly delivering the public health benefits that are promised by the Human Genome Project and related endeavours...
  47. ncbi request reprint The role of common variation in drug transporter genes in refractory epilepsy
    Nicole Soranzo
    Department of Biology, University College London, Queen Square, London, UK
    Expert Opin Pharmacother 6:1305-12. 2005
    ....
  48. ncbi request reprint Reliable registration of preoperative MRI with histopathology after temporal lobe resections
    Sofia H Eriksson
    Department of Clinical and Experimental Epilepsy, National Society for Epilepsy, United Kingdom
    Epilepsia 46:1646-53. 2005
    ..We have developed a method to facilitate registration of preoperative MRI with the resected specimen and to enable correlation of MRI findings with histopathology...
  49. doi request reprint Does the primary literature provide support for clinical signs used to distinguish psychogenic nonepileptic seizures from epileptic seizures?
    Andreja Avbersek
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, London, UK
    J Neurol Neurosurg Psychiatry 81:719-25. 2010
    ..The final clinical diagnosis should encompass all available data and should not rely on any single sign alone...
  50. ncbi request reprint Imaging the interaction: epileptic discharges, working memory, and behavior
    Umair J Chaudhary
    DCEE, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, United Kingdom MRI Unit, Epilepsy Society, Chalfont St Peter, SL9 0RJ, United Kingdom
    Hum Brain Mapp 34:2910-7. 2013
    ..These findings suggest that generalized epileptiform discharges during a high demanding working memory task may change the working memory-related hemodynamic responses in frontal-lobe-network...
  51. ncbi request reprint The role of the interhemispheric pathway in hearing
    Doris Eva Bamiou
    Neuro Otology Department, National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Brain Res Rev 56:170-82. 2007
    ..This review will summarize and discuss the available information of the contributions of the human interhemispheric pathway in hearing in humans from behavioural, neuroimaging and histopathological studies in humans...
  52. ncbi request reprint Cerebral damage in epilepsy: a population-based longitudinal quantitative MRI study
    Rebecca S N Liu
    The Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, England
    Epilepsia 46:1482-94. 2005
    ..We report on the first longitudinal community-based quantitative magnetic resonance imaging (MRI) study to investigate the effect of seizures on the hippocampus, cerebellum, and neocortex...
  53. ncbi request reprint Polymicrogyria and absence of pineal gland due to PAX6 mutation
    Tejal N Mitchell
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London
    Ann Neurol 53:658-63. 2003
    ..With magnetic resonance imaging in 24 humans heterozygous for defined PAX6 mutations, we demonstrated widespread structural abnormalities including absence of the pineal gland and unilateral polymicrogyria...
  54. pmc Heterozygous mutations of OTX2 cause severe ocular malformations
    Nicola K Ragge
    Department of Adnexal Surgery, Moorfields Eye Hospital, London, United Kingdom
    Am J Hum Genet 76:1008-22. 2005
    ..The high incidence of mosaicism and the reduced penetrance have implications for genetic counseling...
  55. ncbi request reprint Pathological tau tangles localize to focal cortical dysplasia in older patients
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London, UK
    Epilepsia 48:1447-54. 2007
    ..We therefore hypothesized that the developmentally abnormal cortex of FCD might be more susceptible to tau-mediated neurodegeneration than adjacent histologically normal cortex...
  56. doi request reprint Epilepsy pharmacogenetics
    Dalia Kasperaviciute
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, London, UK
    Pharmacogenomics 10:817-36. 2009
    ..Here we review the current state of epilepsy pharmacogenetics focusing on phenotyping questions and discuss what characteristics we need to study to get answers...
  57. ncbi request reprint Association of multidrug resistance in epilepsy with a polymorphism in the drug-transporter gene ABCB1
    Asra Siddiqui
    Department of Molecular Pathogenesis, Institute of Neurology, London, UK
    N Engl J Med 348:1442-8. 2003
    ..We hypothesized that the CC genotype at the ABCB1 C3435T polymorphism, which is associated with increased expression of the protein, influences the response to antiepileptic-drug treatment...
  58. ncbi request reprint Etiology and management of refractory epilepsies
    Sanjay Sisodiya
    Department of Clinical and Experimental Epilepsy, University College London Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK
    Nat Clin Pract Neurol 3:320-30. 2007
    ....
  59. ncbi request reprint Carbamazepine toxicity during combination therapy with levetiracetam: a pharmacodynamic interaction
    Sanjay M Sisodiya
    Pharmacology and Therapeutics Unit, Department of Clinical and Experimental Epilepsy, University College London, UK
    Epilepsy Res 48:217-9. 2002
    ..Therefore, during levetiracetam co-medication with carbamazepine, patients should be monitored closely for symptoms of carbamazepine toxicity...
  60. ncbi request reprint Doublecortin expression in focal cortical dysplasia in epilepsy
    Nisaharan Srikandarajah
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, Queen Square, London, United Kingdom
    Epilepsia 50:2619-28. 2009
    ..The aim was to study DCX expression patterns in such lesions compared to normal developing and mature cortex...
  61. ncbi request reprint Reliable callosal measurement: population normative data confirm sex-related differences
    Tejal N Mitchell
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London, UK
    AJNR Am J Neuroradiol 24:410-8. 2003
    ..We sought to define a reliable and easily repeatable method for CCA measurement and to examine the effects of sex, age, handedness, and cerebral volume...
  62. ncbi request reprint Hippocampal malformations do not necessarily evolve into hippocampal sclerosis
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, The Institute of Neurology, University College London, London, England
    Epilepsia 46:939-43. 2005
    ..We seek to address, in patients with recurrent convulsive seizures over many decades, whether hippocampal malformations necessarily progress to hippocampal sclerosis...
  63. pmc The application of cortical layer markers in the evaluation of cortical dysplasias in epilepsy
    George Hadjivassiliou
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, Queen Square, London WC1N 3BG, UK
    Acta Neuropathol 120:517-28. 2010
    ..Finally, immature cell types (Otx1, Pax6 and Tbr2) were noted in varied pathologies. One possibility is activation of progenitor cell populations which could contribute to the pathophysiology of these lesions...
  64. pmc Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study
    Dalia Kasperaviciute
    Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK
    Brain 133:2136-47. 2010
    ..Data emerging from genome-wide association-studies will be valuable during the next serious challenge of interpreting all the genetic variation emerging from whole-genome sequencing studies...
  65. ncbi request reprint SOX2 anophthalmia syndrome
    Nicola K Ragge
    Adnexal Service, Moorfields Eye Hospital, London, United Kingdom
    Am J Med Genet A 135:1-7; discussion 8. 2005
    ....
  66. ncbi request reprint Stertorous breathing is a reliably identified sign that helps in the differentiation of epileptic from psychogenic non-epileptic convulsions: an audit
    Arjune Sen
    Department of Clinical and Experimental Epilepsy, The Institute of Neurology, University College London, Queen Square, London WC1N 3BG, United Kingdom
    Epilepsy Res 77:62-4. 2007
    ..We suggest that a history or evidence (e.g. video) of stertorous breathing may help in distinguishing epileptic from psychogenic non-epileptic convulsive seizures...
  67. ncbi request reprint The structural consequences of newly diagnosed seizures
    Rebecca S N Liu
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, UK
    Ann Neurol 52:573-80. 2002
    ..Cerebral damage may occur before the onset of seizures or develop insidiously over a more prolonged period...
  68. ncbi request reprint Progressive neocortical damage in epilepsy
    Rebecca S N Liu
    Department of Clinical and Experimental Epilepsy, Institute of Neurology, University College London, London, United Kingdom
    Ann Neurol 53:312-24. 2003
    ..Our results show that ongoing cerebral atrophy may be widespread and remote from the putative epileptic focus, possibly reflecting extensive networks and interconnections between cortical regions...
  69. doi request reprint Acute, localised paroxysmal pain as the initial manifestation of focal seizures: a case report and a brief review of the literature
    Gavin Charlesworth
    National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK
    Pain 141:300-5. 2009
    ..A brief discussion of the literature on epileptic pain then follows...
  70. ncbi request reprint Overexpression of the human major vault protein in gangliogliomas
    Eleonora Aronica
    Department of Neuro Pathology, University of Amsterdam, Amsterdam, The Netherlands
    Epilepsia 44:1166-75. 2003
    ..We investigated the expression and cellular localization of MVP in gangliogliomas (GGs), which are increasingly recognized causes of chronic pharmacoresistant epilepsy...
  71. ncbi request reprint Treatment of drug resistance in epilepsy: one step at a time
    Sanjay M Sisodiya
    Lancet Neurol 5:380-1. 2006
  72. ncbi request reprint Examining the role of common genetic variation in the gamma2 subunit of the GABA(A) receptor in epilepsy using tagging SNPs
    Peter Kinirons
    Department of Clinical Neurological Sciences, Royal College of Surgeons in Ireland, Division of Neurology, Beaumont Hospital, Dublin 9, Ireland
    Epilepsy Res 70:229-38. 2006
    ..Here we set out to examine whether common variation in GABRG2 predisposes to the development of common, complex forms of epilepsy in two large independent cohorts...
  73. ncbi request reprint A pharmacogenetic exploration of vigabatrin-induced visual field constriction
    Peter Kinirons
    Department of Clinical Neurological Sciences, Royal College of Surgeons, Division of Neurology, Beaumont Hospital, Dublin, Ireland
    Epilepsy Res 70:144-52. 2006
    ..Given the evidence suggesting an idiosyncratic drug response, we set out to detect genetic variation of strong, clinically relevant effect that might guide clinicians in the safe, controlled prescribing of this otherwise usefuldrug...
  74. pmc Nova2 interacts with a cis-acting polymorphism to influence the proportions of drug-responsive splice variants of SCN1A
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Am J Hum Genet 80:876-83. 2007
    ....
  75. 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...
  76. ncbi request reprint Microdysgenesis in mesial temporal lobe epilepsy
    Sofia H Eriksson
    Ann Neurol 55:596-7; author reply 597. 2004
  77. ncbi request reprint Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study
    Gianpiero L Cavalleri
    Department of Clinical Neurological Sciences and Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland Research Institute, and Division of Neurology, Beaumont Hospital, Dublin, Ireland
    Lancet Neurol 6:970-80. 2007
    ..The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect variants that influence the development and treatment of common forms of epilepsy...
  78. ncbi request reprint An assessment of the Irish population for large-scale genetic mapping studies involving epilepsy and other complex diseases
    Colm T O'Dushlaine
    Neuropsychiatric Genetics Research Group, Department of Psychiatry, Trinity College Dublin, Ireland
    Eur J Hum Genet 16:176-83. 2008
    ..This analysis therefore confirms that the genetic architecture of the Irish population is well suited to the study of complex traits and that tSNPs selected using the HapMap data can be confidently applied to the Irish population...
  79. ncbi request reprint Drug resistance in epilepsy: more twists in the tale
    Sanjay M Sisodiya
    Epilepsia 48:2369-70. 2007
  80. ncbi request reprint Potential genetic causes of heterogeneity of treatment effects
    David B Goldstein
    Center for Population Genomics and Pharmacogenetics, Duke Institute for Genome Sciences and Policy, Duke University, Durham, North Carolina 27710, USA
    Am J Med 120:S21-5. 2007
    ..Increased understanding of a patient's genotype and its corresponding effect on drug response would be useful to the practicing clinician in choosing an effective drug and in optimizing the dose in a timely manner...
  81. ncbi request reprint Seizure-associated hippocampal volume loss: a longitudinal magnetic resonance study of temporal lobe epilepsy
    Rebecca S N Liu
    Ann Neurol 52:861; author reply 862. 2002
  82. pmc Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer's disease
    Erin L Heinzen
    Institute for Genome Sciences and Policy, Center for Population Genomics and Pharmacogenetics, Duke University, Durham, NC 27710, USA
    Genome Biol 8:R32. 2007
    ..New technology permitting the screening of alternative splice variants in microarray format was employed. Real time quantitative PCR was used to verify observed splice variant patterns...