A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been un...
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Autor*in:	Di Rosa, Gabriella [verfasserIn] Messina, Sonia D’Amico, Adele Bertini, Enrico Pustorino, Giuseppina Spanò, Maria Tortorella, Gaetano

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2011

Anmerkung:	© John Libbey Eurotext and Springer 2011

Übergeordnetes Werk:	Enthalten in: Epileptic disorders - Oxford [u.a.] : Wiley-Blackwell, 1999, 13(2011), 3 vom: Sept., Seite 259-262
Übergeordnetes Werk:	volume:13 ; year:2011 ; number:3 ; month:09 ; pages:259-262

Links:	Volltext

DOI / URN:	10.1684/epd.2011.0461

Katalog-ID:	SPR031315410

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spelling	10.1684/epd.2011.0461 doi (DE-627)SPR031315410 (SPR)epd.2011.0461-e DE-627 ger DE-627 rakwb eng Di Rosa, Gabriella verfasserin aut A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © John Libbey Eurotext and Springer 2011 Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. Messina, Sonia aut D’Amico, Adele aut Bertini, Enrico aut Pustorino, Giuseppina aut Spanò, Maria aut Tortorella, Gaetano aut Enthalten in Epileptic disorders Oxford [u.a.] : Wiley-Blackwell, 1999 13(2011), 3 vom: Sept., Seite 259-262 (DE-627)368911993 (DE-600)2118181-0 1950-6945 nnns volume:13 year:2011 number:3 month:09 pages:259-262 https://dx.doi.org/10.1684/epd.2011.0461 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2037 GBV_ILN_2064 GBV_ILN_2108 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2011 3 09 259-262
allfields_unstemmed	10.1684/epd.2011.0461 doi (DE-627)SPR031315410 (SPR)epd.2011.0461-e DE-627 ger DE-627 rakwb eng Di Rosa, Gabriella verfasserin aut A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © John Libbey Eurotext and Springer 2011 Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. Messina, Sonia aut D’Amico, Adele aut Bertini, Enrico aut Pustorino, Giuseppina aut Spanò, Maria aut Tortorella, Gaetano aut Enthalten in Epileptic disorders Oxford [u.a.] : Wiley-Blackwell, 1999 13(2011), 3 vom: Sept., Seite 259-262 (DE-627)368911993 (DE-600)2118181-0 1950-6945 nnns volume:13 year:2011 number:3 month:09 pages:259-262 https://dx.doi.org/10.1684/epd.2011.0461 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2037 GBV_ILN_2064 GBV_ILN_2108 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2011 3 09 259-262
allfieldsGer	10.1684/epd.2011.0461 doi (DE-627)SPR031315410 (SPR)epd.2011.0461-e DE-627 ger DE-627 rakwb eng Di Rosa, Gabriella verfasserin aut A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © John Libbey Eurotext and Springer 2011 Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. Messina, Sonia aut D’Amico, Adele aut Bertini, Enrico aut Pustorino, Giuseppina aut Spanò, Maria aut Tortorella, Gaetano aut Enthalten in Epileptic disorders Oxford [u.a.] : Wiley-Blackwell, 1999 13(2011), 3 vom: Sept., Seite 259-262 (DE-627)368911993 (DE-600)2118181-0 1950-6945 nnns volume:13 year:2011 number:3 month:09 pages:259-262 https://dx.doi.org/10.1684/epd.2011.0461 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2037 GBV_ILN_2064 GBV_ILN_2108 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2011 3 09 259-262
allfieldsSound	10.1684/epd.2011.0461 doi (DE-627)SPR031315410 (SPR)epd.2011.0461-e DE-627 ger DE-627 rakwb eng Di Rosa, Gabriella verfasserin aut A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features 2011 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © John Libbey Eurotext and Springer 2011 Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. Messina, Sonia aut D’Amico, Adele aut Bertini, Enrico aut Pustorino, Giuseppina aut Spanò, Maria aut Tortorella, Gaetano aut Enthalten in Epileptic disorders Oxford [u.a.] : Wiley-Blackwell, 1999 13(2011), 3 vom: Sept., Seite 259-262 (DE-627)368911993 (DE-600)2118181-0 1950-6945 nnns volume:13 year:2011 number:3 month:09 pages:259-262 https://dx.doi.org/10.1684/epd.2011.0461 lizenzpflichtig Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2014 GBV_ILN_2021 GBV_ILN_2037 GBV_ILN_2064 GBV_ILN_2108 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2119 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 13 2011 3 09 259-262
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source	Enthalten in Epileptic disorders 13(2011), 3 vom: Sept., Seite 259-262 volume:13 year:2011 number:3 month:09 pages:259-262
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author	Di Rosa, Gabriella
spellingShingle	Di Rosa, Gabriella A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
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title	A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
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title_full	A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
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author_browse	Di Rosa, Gabriella Messina, Sonia D’Amico, Adele Bertini, Enrico Pustorino, Giuseppina Spanò, Maria Tortorella, Gaetano
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title_sort	new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual eeg features
title_auth	A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
abstract	Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. © John Libbey Eurotext and Springer 2011
abstractGer	Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. © John Libbey Eurotext and Springer 2011
abstract_unstemmed	Abstract We describe two unrelated girls with congenital muscular dystrophy associated with alpha-dystroglycan deficit with no identified genetic defect, both presenting severe drug-resistant epilepsy with predominant myoclonic seizures and an unusual similar EEG pattern. Severe epilepsy has been unusually described in patients with congenital muscular dystrophies, mainly associated with Walker-Warburg, Fukuyama and muscle-eye-brain diseases. © John Libbey Eurotext and Springer 2011
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title_short	A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features
url	https://dx.doi.org/10.1684/epd.2011.0461
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A new form of alpha-dystroglycanopathy associated with severe drug-resistant epilepsy and unusual EEG features

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