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Contributors
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- By Jane E. Adcock, Yahya Aghakhani, A. Anand, Eva Andermann, Frederick Andermann, Alexis Arzimanoglou, Sandrine Aubert, Nadia Bahi-Buisson, Carman Barba, Agatino Battaglia, Geneviève Bernard, Nadir E. Bharucha, Laurence A. Bindoff, William Bingaman, Francesca Bisulli, Thomas P. Bleck, Stewart G. Boyd, Andreas Brunklaus, Harry Bulstrode, Jorge G. Burneo, Laura Canafoglia, Laura Cantonetti, Roberto H. Caraballo, Fernando Cendes, Kevin E. Chapman, Patrick Chauvel, Richard F. M. Chin, H. T. Chong, Fahmida A. Chowdhury, Catherine J. Chu-Shore, Rolando Cimaz, Andrew J. Cole, Bernard Dan, Geoffrey Dean, Alessio De Ciantis, Fernando De Paolis, Rolando F. Del Maestro, Irissa M. Devine, Carlo Di Bonaventura, Concezio Di Rocco, Henry B. Dinsdale, Maria Alice Donati, François Dubeau, Michael Duchowny, Olivier Dulac, Monika Eisermann, Brent Elliott, Bernt A. Engelsen, Kevin Farrell, Natalio Fejerman, Rosalie E. Ferner, Silvana Franceschetti, Robert Friedlander, Antonio Gambardella, Hector H. Garcia, Serena Gasperini, Lorenzo Genitori, Gioia Gioi, Flavio Giordano, Leif Gjerstad, Daniel G. Glaze, Howard P. Goodkin, Sidney M. Gospe, Andrea Grassi, William P. Gray, Renzo Guerrini, Marie-Christine Guiot, William Harkness, Andrew G. Herzog, Linda Huh, Margaret J. Jackson, Thomas S. Jacques, Anna C. Jansen, Sigmund Jenssen, Michael R. Johnson, Dorothy Jones-Davis, Reetta Kälviäinen, Peter W. Kaplan, John F. Kerrigan, Autumn Marie Klein, Matthias Koepp, Edwin H. Kolodny, Kandan Kulandaivel, Ruben I. Kuzniecky, Ahmed Lary, Yolanda Lau, Anna-Elina Lehesjoki, Maria K. Lehtinen, Holger Lerche, Michael P. T. Lunn, Snezana Maljevic, Mark R. Manford, Carla Marini, Bindu Menon, Giulia Milioli, Eli M. Mizrahi, Manish Modi, Márcia Elisabete Morita, Manuel Murie-Fernandez, Vivek Nambiar, Lina Nashef, Vincent Navarro, Aidan Neligan, Ruth E. Nemire, Charles R. J. C. Newton, John O'Donavan, Hirokazu Oguni, Teiichi Onuma, Andre Palmini, Eleni Panagiotakaki, Pasquale Parisi, Elena Parrini, Liborio Parrino, Ignacio Pascual-Castroviejo, M. Scott Perry, Perrine Plouin, Charles E. Polkey, Suresh S. Pujar, Karthik Rajasekaran, R. Eugene Ramsey, Rahul Rathakrishnan, Roberta H. Raven, Guy M. Rémillard, David Rosenblatt, M. Elizabeth Ross, Abdulrahman Sabbagh, P. Satishchandra, Swati Sathe, Ingrid E. Scheffer, Philip A. Schwartzkroin, Rod C. Scott, Frédéric Sedel, Michelle J. Shapiro, Elliott H. Sherr, Michael Shevell, Simon D. Shorvon, Adrian M. Siegel, Gagandeep Singh, S. Sinha, Barbara Spacca, Waney Squier, Carl E. Stafstrom, Bernhard J. Steinhoff, Andrea Taddio, Gianpiero Tamburrini, C. T. Tan, Raymond Y. L. Tan, Erik Taubøll, Robert W. Teasell, Mario Giovanni Terzano, Federica Teutonico, Suzanne A. Tharin, Elizabeth A. Thiele, Pierre Thomas, Paolo Tinuper, Dorothée Kasteleijn-Nolst Trenité, Sumeet Vadera, Pierangelo Veggiotti, Jean-Pierre Vignal, J. M. Walshe, Elizabeth J. Waterhouse, David Watkins, Ruth E. Williams, Yue-Hua Zhang, Benjamin Zifkin, Sameer M. Zuberi
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
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- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
- Print publication:
- 14 April 2011, pp ix-xvi
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Chapter 13 - Benign partial epilepsies of childhood
- from Section 2 - Idiopathic epilepsy
- Edited by Simon D. Shorvon, Frederick Andermann, Renzo Guerrini
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- Book:
- The Causes of Epilepsy
- Published online:
- 05 March 2012
- Print publication:
- 14 April 2011, pp 104-112
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Summary
Genetic studies of the epilepsies involve two main aspects: detailed gathering of data and data analysis. The contribution of genetics to nosology and classification of the epilepsies should be carefully considered. If genetic criteria were prominent, epilepsy syndromes having heterogeneous clinical expressions would be classified within the same category and homogeneous syndromes caused by different genetic mechanisms would fall in different subcategories. The idiopathic generalized epilepsies constitute a group of syndromes characterized by absence seizures, myoclonus, and generalized tonic-clonic seizures. Chromosomal abnormalities are relatively common genetically determined conditions that increase the risk of epilepsy. Ethical and societal considerations are important in establishing guidelines for both genetic counseling and genetic research in the epilepsies. Standard karyotype and high-resolution chromosome analysis, fluorescent in situ hybridization (FISH), molecular karyotyping with array comparative genomic hybridization, multiple ligation-probe amplification (MLPA) and single-nucleotide polymorphism arrays (SNPs) are the standard cytogenetic and molecular techniques for diagnosis.
21 - Shuddering and benign myoclonus of early infancy
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- By Christa Pachatz, Section of Neurophysiology, Bambino Gesù Children's Hospital, Rome, Italy, Lucia Fusco, Section of Neurophysiology, Bambino Gesù Children's Hospital, Rome, Italy, Federico Vigevano, Section of Neurophysiology, Bambino Gesù Children's Hospital, Rome, Italy, Natalio Fejerman, Section of Neurophysiology, Bambino Gesù Children's Hospital, Rome, Italy, Roberto Caraballo, Section of Neurophysiology, Bambino Gesù Children's Hospital, Rome, Italy
- Edited by Renzo Guerrini, University of London, Jean Aicardi, Hôpital Robert-Debré, Paris, Frederick Andermann, Montreal Neurological Institute & Hospital, Mark Hallett, National Institutes of Health, Baltimore
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- Book:
- Epilepsy and Movement Disorders
- Published online:
- 03 May 2010
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- 13 December 2001, pp 343-352
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Summary
Introduction
Benign myoclonus of early infancy is a paroxysmal phenomenon in neurologically healthy infants with onset in the first year of life and a benign self-limited course. It was first described by Lombroso and Fejerman (1977) with the presentation of 16 cases based mainly on anamnestic features. The first polygraphic study on BM was reported by Dravet et al. (1986), who decided to call the phenomenon benign non-epileptic infantile spasms because of the close relationship with the clinical picture of epileptic spasms of West syndrome. We illustrated the clinical and neurophysiological study of 5 patients with BM (Pachatz et al., 1999) and showed that the so-called myoclonus is not a myoclonus in neurophysiological terms, and that it is also clearly distinguishable from epileptic spasms at electromyography and even from a clinical point of view. Since that report, we obtained additional clinical and neurophysiological data in another three children, confirming that BM in its most typical form is characterized by a brief shudder-type axial motor manifestation, which can superimpose a series of other paroxysmal motor phenomena.
Clinical and video-polygraphic findings from a recent series
Between the years 1994 and 1999 we studied eight children, three girls and five boys, at the Division of Neurology, Bambino Gesù Children's Hospital, Rome, Italy, using video-EEG recording in all eight patients and polygraphic recording in four of eight cases. Scalp electrodes were placed according to the International 10–20 System. Polygraphic recordings included surface electromyographic (EMG) recording from the two deltoid muscles, channels for respirogram and electrocardiogram.
In all patients we studied, family or personal history was negative for neurological pathologies.