Bernard S Chang

Summary

Affiliation: Harvard University
Country: USA

Publications

  1. ncbi request reprint Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome
    Sophie C Currier
    Howard Hughes Medical Institute and Department of Neurology Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Am J Med Genet A 133:53-7. 2005
  2. ncbi request reprint Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
    Bernard S Chang
    Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Ann Neurol 53:596-606. 2003
  3. pmc Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
    M Chiara Manzini
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Hum Mutat 29:E231-41. 2008
  4. ncbi request reprint Comprehensive EMX2 genotyping of a large schizencephaly case series
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1313-6. 2007
  5. pmc Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort
    Cecilia Mellado
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 152:2736-42. 2010
  6. ncbi request reprint G protein-coupled receptor-dependent development of human frontal cortex
    Xianhua Piao
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Science 303:2033-6. 2004
  7. ncbi request reprint Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes
    Xianhua Piao
    Division of Newborn Medicine, Department of Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 58:680-7. 2005
  8. doi request reprint Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care
    Kira A Dies
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    J Child Neurol 28:198-203. 2013
  9. ncbi request reprint A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
    Anthony D Hill
    Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1692-8. 2007
  10. ncbi request reprint EMX2-independent familial schizencephaly: clinical and genetic analyses
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 135:166-70. 2005

Collaborators

Detail Information

Publications27

  1. ncbi request reprint Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome
    Sophie C Currier
    Howard Hughes Medical Institute and Department of Neurology Beth Israel Deaconess Medical Center, Boston, Massachusetts, USA
    Am J Med Genet A 133:53-7. 2005
    ..We conclude that while the incidence of POMT1 mutations in WWS can be as high as 20% as reported by Beltran-Valero de Bernabe et al. [2002] and it can be as low as approximately 7%, as reported here...
  2. ncbi request reprint Bilateral frontoparietal polymicrogyria: clinical and radiological features in 10 families with linkage to chromosome 16
    Bernard S Chang
    Division of Neurogenetics, Beth Israel Deaconess Medical Center, Harvard Institutes of Medicine, Boston, MA 02115, USA
    Ann Neurol 53:596-606. 2003
    ..Because 11 of our patients initially were classified as having other malformations, the syndrome of BFPP appears to be more common than previously recognized and may be frequently misdiagnosed...
  3. pmc Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East
    M Chiara Manzini
    Division of Genetics, Children s Hospital Boston, Harvard Medical School, Boston, MA 02115, USA
    Hum Mutat 29:E231-41. 2008
    ..Notably, the FCMD gene was a more common cause of WWS than previously expected in the European/American subset of our cohort, including all Ashkenazi Jewish cases, who carried the same founder mutation...
  4. ncbi request reprint Comprehensive EMX2 genotyping of a large schizencephaly case series
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1313-6. 2007
    ..No pathologic mutations were identified in this cohort, suggesting that EMX2 mutations are an uncommon cause of schizencephaly...
  5. pmc Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort
    Cecilia Mellado
    Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 152:2736-42. 2010
    ..No pathogenic mutations were observed, suggesting that other genes or non-genetic factors influencing genes critical to brain development must be responsible for schizencephaly...
  6. ncbi request reprint G protein-coupled receptor-dependent development of human frontal cortex
    Xianhua Piao
    Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, and Department of Neurology, Harvard Medical School, Boston, MA 02115, USA
    Science 303:2033-6. 2004
    ..BFPP is characterized by disorganized cortical lamination that is most severe in frontal cortex. Our data suggest that GPCR signaling plays an essential role in regional development of human cerebral cortex...
  7. ncbi request reprint Genotype-phenotype analysis of human frontoparietal polymicrogyria syndromes
    Xianhua Piao
    Division of Newborn Medicine, Department of Medicine, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Ann Neurol 58:680-7. 2005
    ..No GPR56 mutation was found in these patients. This study provides a molecular confirmation of the BFPP phenotype and provides the wherewithal for diagnostic screening...
  8. doi request reprint Schizencephaly: association with young maternal age, alcohol use, and lack of prenatal care
    Kira A Dies
    Department of Neurology, Boston Children s Hospital, Boston, MA, USA
    J Child Neurol 28:198-203. 2013
    ..Our results suggest that there are important nongenetic, intrauterine events that predispose to schizencephaly...
  9. ncbi request reprint A 2-Mb critical region implicated in the microcephaly associated with terminal 1q deletion syndrome
    Anthony D Hill
    Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 143:1692-8. 2007
    ..0-Mb microcephaly critical region including the 1q43-1q44 boundary and no more than 11 genes...
  10. ncbi request reprint EMX2-independent familial schizencephaly: clinical and genetic analyses
    Ian Tietjen
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet A 135:166-70. 2005
    ..These results indicate that genetic forms of schizencephaly are likely to be heterogeneous...
  11. pmc A novel GPR56 mutation causes bilateral frontoparietal polymicrogyria
    Rong Luo
    Division of Newborn Medicine, Department of Medicine, Children s Hospital and Harvard Medical School, Boston, Massachusetts, USA
    Pediatr Neurol 45:49-53. 2011
    ..These results provide further insights into how GPR56 mutation causes neurologic disease...
  12. pmc The relationship of interictal epileptiform discharges to clinical epilepsy severity: a study of routine electroencephalograms and review of the literature
    Megan F Selvitelli
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Clin Neurophysiol 27:87-92. 2010
    ....
  13. pmc Multiscale information for network characterization in epilepsy
    Catherine Stamoulis
    Departments of Neurology and Radiology and the Clinical Research Program, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Conf Proc IEEE Eng Med Biol Soc 2011:5908-11. 2011
    ..These parameters are shown to be modulated in a frequency-specific manner at baseline, as well as during seizure evolution...
  14. ncbi request reprint The role of RELN in lissencephaly and neuropsychiatric disease
    Bernard S Chang
    Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02115, USA
    Am J Med Genet B Neuropsychiatr Genet 144:58-63. 2007
    ..Although RELN appears to be critical for normal cerebral and cerebellar development, its role, if any, in the pathogenesis of psychiatric disorders remains unclear...
  15. ncbi request reprint Mapping form and function in the human brain: the emerging field of functional neuroimaging in cortical malformations
    Bernard S Chang
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Epilepsy Behav 4:618-25. 2003
    ..In this review we highlight some of the prominent findings in this emerging field by presenting the functional neuroimaging characteristics of selected MCDs...
  16. pmc Space-time adaptive processing for improved estimation of preictal seizure activity
    Catherine Stamoulis
    Department of Radiology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Conf Proc IEEE Eng Med Biol Soc 2012:6157-60. 2012
    ..It is shown that when an improved estimate of the baseline covariance is included in the preictal detector, the true positive rate increases significantly and also the false positive rate decreases significantly...
  17. pmc Signal subspace integration for improved seizure localization
    Catherine Stamoulis
    Department of Radiology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    Conf Proc IEEE Eng Med Biol Soc 2012:1016-9. 2012
    ..Coherent subspace processing performed better than PCA, significantly improved the localization of ictal EEGs and the estimation of distinct sources and corresponding DOAs...
  18. pmc Gray matter volumes and cognitive ability in the epileptogenic brain malformation of periventricular nodular heterotopia
    Linsey M Walker
    Comprehensive Epilepsy Center, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA, USA
    Epilepsy Behav 15:456-60. 2009
    ....
  19. doi request reprint Cerebral volumetric analysis over time in children with malformations of cortical development: a quantitative investigation
    Linsey M Walker
    Comprehensive Epilepsy Center, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
    J Child Neurol 26:171-8. 2011
    ..Our findings demonstrate that overall brain growth in children with cortical malformations appears to mirror that of the healthy population, although malformed regions can show distinct growth patterns...
  20. pmc Network dynamics of the epileptic brain at rest
    Catherine Stamoulis
    Department of Neurology, Harvard Medical School and Beth Israel Deaconess Medical Center, Boston, MA 02215, USA
    Conf Proc IEEE Eng Med Biol Soc 2010:150-3. 2010
    ..At rest, the healthy brain appears to be characterized by low and non-directional network coupling, whereas the epileptic brain appears to be transiently and directionally synchronized...
  21. pmc Estimation of brain state changes associated with behavior, stimulation and epilepsy
    Catherine Stamoulis
    Department of Neurology, Harvard Medical School, Beth Israel Deaconess Medical Center, Boston MA 02215, USA
    Conf Proc IEEE Eng Med Biol Soc 2009:4719-22. 2009
    ..In contrast, no such dynamic pattern was evident in state estimates during generalized seizures...
  22. pmc The syndrome of perisylvian polymicrogyria with congenital arthrogryposis
    Annapurna Poduri
    Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Children s Hospital Boston and Harvard Medical School, Boston, MA 02215, USA
    Brain Dev 32:550-5. 2010
    ..We sought to investigate the clinical, electrophysiological, and neuroradiological features of this combined syndrome to determine if there are unique features that distinguish BPP with arthrogryposis from BPP alone...
  23. pmc Modeling noninvasive neurostimulation in epilepsy as stochastic interference in brain networks
    Catherine Stamoulis
    Department of Radiology and Clinical Research Center, Children s Hospital Boston and Harvard Medical School, Boston, MA 02115, USA
    IEEE Trans Neural Syst Rehabil Eng 21:354-63. 2013
    ..Furthermore, stimulation parameters, particularly amplitude and spatio-temporal application, may be optimized based on patient-specific neurodynamics estimated directly from noninvasive EEGs...
  24. pmc Sleep spindle alterations in patients with malformations of cortical development
    Megan F Selvitelli
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, 330 Brookline Avenue, Boston, MA 02215, USA
    Brain Dev 31:163-8. 2009
    ..Our findings suggest that brain malformations disrupt the thalamocortical circuits responsible for sleep spindle generation, and support the need for further studies on the relationships between cortical maldevelopment and sleep...
  25. ncbi request reprint Epilepsy
    Bernard S Chang
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center, and Harvard Medical School, Boston, USA
    N Engl J Med 349:1257-66. 2003
  26. ncbi request reprint Practice parameter: antiepileptic drug prophylaxis in severe traumatic brain injury: report of the Quality Standards Subcommittee of the American Academy of Neurology
    Bernard S Chang
    Comprehensive Epilepsy Center, Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    Neurology 60:10-6. 2003
    ..To review the evidence regarding antiepileptic drug (AED) prophylaxis in patients with severe traumatic brain injury (TBI) in order to make practice recommendations...
  27. ncbi request reprint Outpatient EEG monitoring in the presurgical evaluation of patients with refractory temporal lobe epilepsy
    Bernard S Chang
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Clin Neurophysiol 19:152-6. 2002
    ..The authors conclude that there is a subset of patients for whom solely outpatient presurgical EEG monitoring can be used to help plan successful temporal lobectomy...