Massimo Pandolfo

Summary

Country: Belgium

Publications

  1. ncbi Frataxin knockin mouse
    Carlos J Miranda
    Department of Medicine, Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame, Pav de Seve Y5608, 1560 rue Sherbrooke Est, H2L 4M1, Montreal, QC, Canada
    FEBS Lett 512:291-7. 2002
  2. ncbi Effects of levetiracetam on the production of nitric oxide--an in vivo study
    Marie Dagonnier
    J Neurol 252:727-30. 2005
  3. pmc Hemicerebellectomy blocks the enhancement of cortical motor output associated with repetitive somatosensory stimulation in the rat
    Nordeyn Oulad Ben Taib
    Service de Neurochirurgie, Hôpital Erasme ULB, Brussels, Belgium
    J Physiol 567:293-300. 2005
  4. pmc HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
    Myriam Rai
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles ULB, Brussels, Belgium
    PLoS ONE 3:e1958. 2008
  5. doi Friedreich ataxia
    Massimo Pandolfo
    Service de Neurologie, Erasme Hospital, Brussels Free University, Route de Lennik 808, B 1070, Brussels, Belgium
    Arch Neurol 65:1296-303. 2008
  6. pmc PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia
    Daniele Marmolino
    Laboratoire de Neurologie Expérimentale, Universite Libre de Bruxelles, Brussels, Belgium
    PLoS ONE 5:e10025. 2010
  7. pmc Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
    Aurore Hick
    Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, 67404 Illkirch, France
    Dis Model Mech 6:608-21. 2013
  8. ncbi Deferiprone for the treatment of Friedreich's ataxia
    Massimo Pandolfo
    Department of Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    J Neurochem 126:142-6. 2013
  9. doi Pediatric epilepsy genetics
    Massimo Pandolfo
    Department of Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    Curr Opin Neurol 26:137-45. 2013
  10. pmc Friedreich ataxia: new pathways
    Massimo Pandolfo
    Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    J Child Neurol 27:1204-11. 2012

Detail Information

Publications60

  1. ncbi Frataxin knockin mouse
    Carlos J Miranda
    Department of Medicine, Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame, Pav de Seve Y5608, 1560 rue Sherbrooke Est, H2L 4M1, Montreal, QC, Canada
    FEBS Lett 512:291-7. 2002
    ..These mice were viable and did not develop anomalies of motor coordination, iron metabolism or response to iron loading. Repeats were meiotically and mitotically stable...
  2. ncbi Effects of levetiracetam on the production of nitric oxide--an in vivo study
    Marie Dagonnier
    J Neurol 252:727-30. 2005
  3. pmc Hemicerebellectomy blocks the enhancement of cortical motor output associated with repetitive somatosensory stimulation in the rat
    Nordeyn Oulad Ben Taib
    Service de Neurochirurgie, Hôpital Erasme ULB, Brussels, Belgium
    J Physiol 567:293-300. 2005
    ..Hemicerebellectomy blocked the enhancement of the corticomotor response. The cerebellum is a key player in this form of short-term plasticity...
  4. pmc HDAC inhibitors correct frataxin deficiency in a Friedreich ataxia mouse model
    Myriam Rai
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles ULB, Brussels, Belgium
    PLoS ONE 3:e1958. 2008
    ....
  5. doi Friedreich ataxia
    Massimo Pandolfo
    Service de Neurologie, Erasme Hospital, Brussels Free University, Route de Lennik 808, B 1070, Brussels, Belgium
    Arch Neurol 65:1296-303. 2008
    ..At the same time, the complex pathogenesis of Friedreich ataxia started to be unraveled. Herein, I review our current knowledge of the disease and how it is contributing to the development of therapeutic approaches...
  6. pmc PGC-1alpha down-regulation affects the antioxidant response in Friedreich's ataxia
    Daniele Marmolino
    Laboratoire de Neurologie Expérimentale, Universite Libre de Bruxelles, Brussels, Belgium
    PLoS ONE 5:e10025. 2010
    ....
  7. pmc Neurons and cardiomyocytes derived from induced pluripotent stem cells as a model for mitochondrial defects in Friedreich's ataxia
    Aurore Hick
    Translational Medicine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, 67404 Illkirch, France
    Dis Model Mech 6:608-21. 2013
    ..Our data show for the first time that FRDA iPSCs and their neuronal and cardiac derivatives represent promising models for the study of mitochondrial damage and GAA expansion instability in FRDA...
  8. ncbi Deferiprone for the treatment of Friedreich's ataxia
    Massimo Pandolfo
    Department of Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    J Neurochem 126:142-6. 2013
    ..Here, clinical studies on Deferiprone are reviewed in the context of alternative agents such as desferoxamine, with specific regard to its mechanistic and clinical implications. ..
  9. doi Pediatric epilepsy genetics
    Massimo Pandolfo
    Department of Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    Curr Opin Neurol 26:137-45. 2013
    ..Epilepsy due to inherited metabolic diseases, chromosomal abnormalities, phakomatoses, or malformations of cortical development is reviewed elsewhere...
  10. pmc Friedreich ataxia: new pathways
    Massimo Pandolfo
    Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    J Child Neurol 27:1204-11. 2012
    ....
  11. doi Genetics of epilepsy
    Massimo Pandolfo
    Department of Neurology, Universite Libre de Bruxelles, Hopital Erasme, Brussels, Belgium
    Semin Neurol 31:506-18. 2011
    ..There have been recent advances in discovering such factors, in particular those underlying risk to medication toxicity...
  12. ncbi [The neurology department]
    M Pandolfo
    Rev Med Brux 23:127-30. 2002
    ..Neurogenetics is a recent addition to the areas of the interest of the department; research in neurogenetics includes basic investigations as well as clinical studies and focuses on inherited ataxias and genetic epilepsies...
  13. doi Friedreich ataxia: the clinical picture
    Massimo Pandolfo
    Service de Neurologie, Universite Libre de Bruxelles Hopital Erasme, Bruxelles, Belgium
    J Neurol 256:3-8. 2009
    ..In addition to a review of the clinicopathological features of FRDA, a discussion of recent advances in our understanding of the underlying molecular mechanisms is provided...
  14. ncbi Iron metabolism and mitochondrial abnormalities in Friedreich ataxia
    Massimo Pandolfo
    Service de Neurologie, Universite Libre de Bruxelles Hopital Erasme, Route de Lennik 808, B 1070 Brussels, Belgium
    Blood Cells Mol Dis 29:536-47; discussion 548-52. 2002
    ..Regulatory mechanisms in the cytosol would then sense a post-mitochondrial iron pool. Much circumstantial evidence from genetically manipulated yeast and from human diseases supports this model...
  15. doi The pathogenesis of Friedreich ataxia and the structure and function of frataxin
    Massimo Pandolfo
    Service de Neurologie, Hôpital Erasme Université Libre de Bruxelles, Brussels, Belgium
    J Neurol 256:9-17. 2009
    ..To understand FRDA pathogenesis and to design novel therapeutic strategies, we must first precisely identify the cellular role of frataxin...
  16. doi Drug Insight: antioxidant therapy in inherited ataxias
    Massimo Pandolfo
    Service de Neurologie, Universite Libre de Bruxelles Hopital Erasme, Route de Lennik 808, B 1070 Bruxelles, Belgium
    Nat Clin Pract Neurol 4:86-96. 2008
    ..This condition seems to respond to idebenone, a coenzyme Q analog that has antioxidant and oxidative-phosphorylation-stimulating properties...
  17. ncbi Effects of anti-glutamic acid decarboxylase antibodies associated with neurological diseases
    Mario Ubaldo Manto
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Universite Libre de Bruxelles, Bruxelles, Belgium
    Ann Neurol 61:544-51. 2007
    ..However, the pathogenic role of GAD-Ab in neurological diseases remains a matter of debate...
  18. pmc Two new pimelic diphenylamide HDAC inhibitors induce sustained frataxin upregulation in cells from Friedreich's ataxia patients and in a mouse model
    Myriam Rai
    Laboratoire de Neurologie Expérimentale, Hopital Erasme, Brussels, Belgium
    PLoS ONE 5:e8825. 2010
    ....
  19. ncbi Grafting neural precursor cells promotes functional recovery in an SCA1 mouse model
    Satyan Chintawar
    Laboratory of Experimental Neurology and 2Laboratory of Neurophysiology, Brussels Free University ULB, Brussels, Belgium
    J Neurosci 29:13126-35. 2009
    ..We postulate that a similar neuroprotective effect of NPCs may be applicable to other cerebellar degenerative diseases...
  20. ncbi Gene set enrichment analysis reveals several globally affected pathways due to SKI-1/S1P inhibition in HepG2 cells
    Aloys De Windt
    Department of Neurology, Free University of Brussels, Brussels, Belgium
    DNA Cell Biol 26:765-72. 2007
    ..These results demonstrate that inhibition of SREBPs decreases cholesterol synthesis in HepG2 cells both in the absence and presence of homocysteine. SKI-1/S1P inhibition may cause widespread changes in other key metabolic pathways...
  21. pmc Proprotein convertase subtilisin/kexin type 9 (PCSK9) gene is a risk factor of large-vessel atherosclerosis stroke
    Sherine Abboud
    Laboratory of Experimental Neurology, Department of Neurology, Erasme Hospital, Universite Libre de Bruxelles, Brussels, Belgium
    PLoS ONE 2:e1043. 2007
    ..We studied whether the PCSK9 gene is linked to the risk of ischemic stroke (IS) and with the development of intracranial atherosclerosis...
  22. ncbi Aminopyridines correct early dysfunction and delay neurodegeneration in a mouse model of spinocerebellar ataxia type 1
    Raphael Hourez
    Laboratory of Neurophysiology, Universite Libre de Bruxelles, 1070 Brussels, Belgium
    J Neurosci 31:11795-807. 2011
    ....
  23. doi Associations of apolipoprotein E gene with ischemic stroke and intracranial atherosclerosis
    Sherine Abboud
    Department of Neurology, ULB Erasme Hospital, Brussels, Belgium
    Eur J Hum Genet 16:955-60. 2008
    ..In contrast, the promoter variants were significant predictors of IS, suggesting that quantitative rather than qualitative variation of apoE is related to IS...
  24. ncbi Friedreich ataxia: Detection of GAA repeat expansions and frataxin point mutations
    Massimo Pandolfo
    Service de Neurologie, Universite Libre de Bruxelles Hopital Erasme, Bruxelles, Belgium
    Methods Mol Med 126:197-216. 2006
    ..Sequence analysis of the five coding exons of the frataxin gene should be performed in clinically affected individuals who are heterozygous for an expanded GAA repeat to identify point mutations...
  25. pmc Variant on 9p21 strongly associates with coronary heart disease, but lacks association with common stroke
    Robin Lemmens
    Department of Neurology, University Hospitals Leuven, Leuven, Belgium
    Eur J Hum Genet 17:1287-93. 2009
    ..The risk variant on chromosome 9, tagged by rs10757278, is associated with coronary heart disease in the Belgian population, but not with isolated CVD. These findings suggest different pathogenic mechanisms in CAD versus CVD...
  26. ncbi Interaction between repetitive stimulation of the sciatic nerve and functional ablation of cerebellar nucleus interpositus in the rat
    Nordeyn Oulad Ben Taib
    Service de Neurochirurgie, Hospital Erasme, ULB, Bruxelles, Belgium
    Cerebellum 3:21-6. 2004
    ....
  27. ncbi Bilateral high-frequency synchronous discharges: a new form of tremor in humans
    Mario Ubaldo Manto
    Fonds National de la Recherche Scientifique, Laboratoire du Mouvement, Service Neurologie ULB, 808, Route de Lennik 1070, Bruxelles, Belgium
    Arch Neurol 60:416-22. 2003
    ....
  28. ncbi Recurrent transient ischemic attacks in a patient with intrapulmonary arteriovenous shunting detected after closure of a patent foramen ovale
    Philippe Unger
    Department of Cardiology, Erasme Hospital, Brussels, Belgium
    J Am Soc Echocardiogr 17:775-7. 2004
    ..This case illustrates the fact that contrast echocardiography may fail to identify intrapulmonary shunts when a resting patent foramen ovale coexists...
  29. ncbi Chronic inflammatory demyelinating polyneuropathy in a diabetic patient: deterioration after intravenous immunoglobulins treatment and favorable response to steroid treatment
    K Pedersen
    Department of Neurology, Hopital Erasme, Universite Libre de Bruxelles, Brussels, Belgium
    Acta Neurol Belg 107:14-7. 2007
    ..After one month of steroid treatment, the patient was walking alone. This case raises the question whether IVIG is to be considered as first line treatment for diabetes associated CIDP...
  30. ncbi Is the Addenbrooke's cognitive examination effective to detect frontotemporal dementia?
    J C Bier
    Dept of Neurology, Erasme Hospital, Brussels, Belgium
    J Neurol 251:428-31. 2004
    ..2 was 72%,with a specificity of 69.4%. We conclude that, when used as originally proposed, ACE is very accurate for the detection of dementia, but much less effective in discriminating the most common frontal variant of FTD...
  31. pmc Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich's ataxia
    Alain Martelli
    Translational Medecine and Neurogenetics, Institut de Genetique et de Biologie Moleculaire et Cellulaire IGBMC, 67404 Illkirch, France
    Dis Model Mech 5:860-9. 2012
    ..Together, our data demonstrate that frataxin deficiency and tumorigenesis are not associated...
  32. ncbi Gene set enrichment analyses revealed several affected pathways in Niemann-pick disease type C fibroblasts
    Aloys De Windt
    Department of Neurology and Laboratory of Experimental Neurology, ULB Erasme Hospital, Brussels, Belgium, and Turku Centre for Biotechnology, University of Turku, Finland
    DNA Cell Biol 26:665-71. 2007
    ..Based on the present results and earlier published data, anti-inflammatory and antiapoptotic treatment could be beneficial in NPC...
  33. doi CADISP-genetics: an International project searching for genetic risk factors of cervical artery dissections
    S Debette
    Department of Neurology, University Hospital of Lille, Lille, France
    Int J Stroke 4:224-30. 2009
    ..Our aim is to identify genetic variants associated with an increased risk of CAD and possibly gene-environment interactions...
  34. ncbi Depression of extra-cellular GABA and increase of NMDA-induced nitric oxide following acute intra-nuclear administration of alcohol in the cerebellar nuclei of the rat
    Mario Manto
    Laboratoire de Neurologie Expérimentale, Hôpital Erasme ULB, Brussels, Belgium
    Cerebellum 4:230-8. 2005
    ..The hypothesis of AMPA neurotoxicity, which has convincing arguments during chronic exposure, is challenged in this model of acute cerebellar nuclear toxicity of alcohol...
  35. doi Blood-brain barrier promotes differentiation of human fetal neural precursor cells
    Satyan Chintawar
    Laboratory of Experimental Neurology, Universite Libre de Bruxelles, Brussels, Belgium
    Stem Cells 27:838-46. 2009
    ....
  36. ncbi Normal left ventricular ejection fraction and mass but subclinical myocardial dysfunction in patients with Friedreich's ataxia
    Chantal Dedobbeleer
    Department of Cardiology, Erasme Hospital, Universite Libre de Bruxelles, 808 Route de Lennik, Brussels, Belgium
    Eur Heart J Cardiovasc Imaging 13:346-52. 2012
    ..We hypothesized that subclinical left ventricular (LV) dysfunction may occur in 'FRDA patients who have normal LV ejection fraction (LVEF) and mass...
  37. doi A new locus for familial temporal lobe epilepsy on chromosome 3q
    Lyne Chahine
    Department of Neurology, ULB Hopital Erasme, Brussels, Belgium
    Epilepsy Res 106:338-44. 2013
    ..Several loci have been mapped in families with FMTLE, but responsible genes have not been found. We report clinical evaluation in a large family with FMTLE and a new genetic locus...
  38. doi Central role and mechanisms of β-cell dysfunction and death in friedreich ataxia-associated diabetes
    Miriam Cnop
    Laboratory of Experimental Medicine, Universite Libre de Bruxelles, Brussels, Belgium
    Ann Neurol 72:971-82. 2012
    ..FRDA patients have a high prevalence of diabetes, the pathogenesis of which is not known. We aimed to evaluate the relative contribution of insulin resistance and β-cell failure and the pathogenic mechanisms involved in FRDA diabetes...
  39. ncbi Friedreich ataxia
    Massimo Pandolfo
    Department of Neurology, Erasme Hospital, Brussels Free University, Brussels, Belgium
    Semin Pediatr Neurol 10:163-72. 2003
    ..Therapeutic attempts are already using anti-oxidant strategies and such efforts are likely to be enhanced by the rapid availability of animal models of the disease...
  40. ncbi The cerebellum may be directly involved in cognitive functions
    M Vokaer
    Department of Neurology, Erasme Hospital, Universite Libre de Bruxelles, Brussels, Belgium
    Neurology 58:967-70. 2002
    ..Here, the authors describe a patient with bilateral anterior ponto-cerebellar ischemic lesions associated with major neuropsychological deficits. Cerebral PET and SPECT demonstrated no metabolic defect in supratentorial areas...
  41. ncbi Frataxin overexpressing mice
    Carlos J Miranda
    Department of Medicine, Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame, 1560 Sherbrooke Est, Montreal, QC, Canada H2L 4M1
    FEBS Lett 572:281-8. 2004
    ..Several hypotheses for frataxin function were evaluated in tgFxn mice. In particular, we observed that TgFxn mice show an altered response during hematopoietic differentiation, suggesting that frataxin may directly affect heme synthesis...
  42. ncbi Striking intrafamilial phenotypic variability and spastic paraplegia in the presence of similar homozygous expansions of the FRDA1 gene
    Amanpreet Badhwar
    Neurogenetics Unit, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada
    Mov Disord 19:1424-31. 2004
    ..Factors such as somatic mosaicism, repeat interruptions, modifying mutations and environmental factors must also be considered...
  43. ncbi Iron metabolism in mice with partial frataxin deficiency
    Manuela M Santos
    Department of Medicine, Centre Hospitalier de l Universite de Montreal, Hopital Notre Dame, Montreal, Quebec, Canada
    Cerebellum 2:146-53. 2003
    ..In addition, these results suggest that frataxin mutations may have a modifier role in HH, that predisposes to cardiomyopathy...
  44. ncbi New clues on the origin of the Friedreich ataxia expanded alleles from the analysis of new polymorphisms closely linked to the mutation
    Antonella Monticelli
    Dipartimento di Biologia e Patologia Cellulare e Molecolare, L Califano Università Federico II, Via S Pansini 5, 80131 Naples, Italy
    Hum Genet 114:458-63. 2004
    ..The long normal alleles more frequently showed the 17A haplotype. Our data seem to suggest that all the E alleles come from LN alleles, while LN alleles come from a defined subclass of SN alleles...
  45. ncbi 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...
  46. pmc Gene expression profiling in frataxin deficient mice: microarray evidence for significant expression changes without detectable neurodegeneration
    Giovanni Coppola
    Program in Neurogenetics, Department of Neurology, David Geffen School of Medicine UCLA, 710 Westwood Plaza, Los Angeles, CA 90095, USA
    Neurobiol Dis 22:302-11. 2006
    ..The identification of a core set of genes changing early in the FRDA pathogenesis can be a useful tool in both clarifying the disease process and in evaluating new therapeutic strategies...
  47. ncbi Friedreich's ataxia associated with mitochondrial myopathy: clinicopathologic report
    Catherine L Gallagher
    Department of Neurology, University of Wisconsin, Madison, USA
    J Child Neurol 17:453-6. 2002
    ..The patient also responded clinically to carnitine supplementation, suggesting a potential palliative therapy for the disease...
  48. ncbi The molecular basis of Friedreich ataxia
    Massimo Pandolfo
    Centre Hospitalier de lé Université de Montréal, Hopital Notre Dame, 1560 rue Sherbrooke Est, Montreal, Québec H2L 4M1 Canada
    Adv Exp Med Biol 516:99-118. 2002
  49. ncbi Myorhythmia associated with Hodgkin's lymphoma
    Valerie Wiener
    J Neurol 250:1382-4. 2003
  50. pmc Spinocerebellar ataxia type 8: molecular genetic comparisons and haplotype analysis of 37 families with ataxia
    Yoshio Ikeda
    Institute of Human Genetics and Department of Genetics, Cell Biology, and Development, University of Minnesota, Minneapolis, 55455, USA
    Am J Hum Genet 75:3-16. 2004
    ....
  51. ncbi Down-regulation of the dopamine receptor D2 in mice lacking ataxin 1
    Robert Goold
    UCL Institute of Child Health, University College London, UK
    Hum Mol Genet 16:2122-34. 2007
    ..Therefore, this study identifies novel molecular targets that are regulated by Atxn1 which might contribute to the motor deficits in SCA1, and provides new insights into the mechanisms by which Atxn1 co-regulates transcription...
  52. ncbi Genetic analysis of candidate genes modifying the age-at-onset in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076, Tubingen, Germany
    Hum Genet 120:285-92. 2006
    ..Although some of the factors have been defined as genetic modifier factors in previous studies, none of the genes encoding GRIK2, TBP, BDNF and ZDHHC17 could be identified as a genetic modifier for HD...
  53. ncbi Study of the adenosinergic system in the brain of HPRT knockout mouse (Lesch-Nyhan disease)
    Matteo Bertelli
    Laboratorio di Genetica Medica, Istituto Malattie Rare Mauro Baschirotto BIRD Foundation Onlus, 36023 Costozza, Vicenza, Italy
    Clin Chim Acta 373:104-7. 2006
    ..Altered adenosine transport across the membrane of HPRT-deficient lymphocytes has been reported, suggesting adenosine involvement in LND...
  54. pmc Real-time PCR and linkage studies to identify carriers presenting HPRT deleted gene
    Cristina Lapucci
    Institute BIRD Europe, Vicenza, Italy
    Mol Med 12:246-51. 2006
    ..We hope that the real-time PCR approach will provide a useful and reliable method to diagnose LNS carriers of large deletions in HPRT gene...
  55. ncbi The S18Y polymorphism in the UCHL1 gene is a genetic modifier in Huntington's disease
    Silke Metzger
    Department of Medical Genetics, University of Tubingen, Calwerstrasse 7, 72076 Tubingen, Germany
    Neurogenetics 7:27-30. 2006
    ..In this group, the allelic variation on locus S18Y is responsible for 1.1% of the variance in the HD age-at-onset, and the rare Y allele is associated with younger-aged cases...
  56. ncbi Spinocerebellar ataxia type 14: opening a new door in dominant ataxia research?
    Massimo Pandolfo
    Neurology 64:1113-4. 2005
  57. ncbi A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping
    Samuel F Berkovic
    Epilepsy Research Centre and Department of Medicine Neurology, University of Melbourne, Austin Health, Heidelberg West, Victoria, Australia
    Brain 128:652-8. 2005
    ..The locus on chromosome 12 does not contain genes for any other form of PME, nor does it have genes known to be related to cystatin B. This represents a new form of PME and we have designated the locus as EPM1B...
  58. ncbi The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway
    Hsien Yang Lee
    Department of Neurology, UCSF, San Francisco, CA, USA
    Hum Mol Genet 13:3161-70. 2004
    ..Stress response pathways will be important areas for elucidation of episodic disease genetics where stress is a common precipitant of many common disorders like epilepsy, migraine and cardiac arrhythmias...
  59. ncbi Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12
    Samuel F Berkovic
    Epilepsy Research Centre, University of Melbourne, Austin and Repatriation Medical Centre, Victoria, Australia
    Epilepsia 45:1054-60. 2004
    ..A gene for FPEVF was mapped to chromosome 22q12 in two distantly related French-Canadian families...
  60. ncbi Unusually mild tuberous sclerosis phenotype is associated with TSC2 R905Q mutation
    An C Jansen
    Neurogenetics Unit, Montreal Neurological Hospital and Institute, McGill University, Montreal, Quebec, Canada
    Ann Neurol 60:528-39. 2006
    ..To report the clinical manifestations and functional aspects of Tuberous Sclerosis Complex (TSC), resulting from Codon 905 mutations in TSC2 gene...