Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1-Reference-Cited by-同舟云学术

Spinal muscular atrophy associated with progressive myoclonic epilepsy: A rare condition caused by mutations inASAH1

Published:2015-04-03 Issue:5 Volume:56 Page:692-698
ISSN:0013-9580
Container-title:Epilepsia
language:en
Short-container-title:Epilepsia

Author:

Rubboli Guido¹²,Veggiotti Pierangelo³,Pini Antonella⁴,Berardinelli Angela⁵,Cantalupo Gaetano⁶,Bertini Enrico⁷,Tiziano Francesco Danilo⁸,D'Amico Adele⁷,Piazza Elena⁵,Abiusi Emanuela⁸,Fiori Stefania⁸,Pasini Elena²,Darra Francesca⁶,Gobbi Giuseppe⁴,Michelucci Roberto²

Affiliation:

1. Danish Epilepsy Center; Filadelfia/University of Copenhagen; Dianalund Denmark

2. Neurology Unit; Bellaria Hospital; IRCCS Institute of Neurological Sciences; Bologna Italy

3. Department of Brain and Behavioral Sciences; Child Neuropsychiatry Unit; IRCCS C. Mondino National Neurological Institute; University of Pavia; Pavia Italy

4. Child Neurology Unit; Bellaria Hospital; IRCCS Institute of Neurological Sciences; Bologna Italy

5. Child Neuropsychiatry Unit; IRCCS C. Mondino National Neurological Institute; Pavia Italy

6. Department of Life and Reproduction Sciences; University of Verona; Verona Italy

7. IRCCS Laboratory of Molecular Medicine; Bambino Gesu' Children's Research Hospital; Rome Italy

8. Medical Genetics Institute; Catholic University; Rome Italy

Publisher

Wiley

Subject

Neurology (clinical),Neurology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/epi.12977/fullpdf

Reference21 articles.

1. Hereditary myoclonus and progressive distal muscular atrophy;Jankovic;Ann Neurol,1979

2. Progressive myoclonic epilepsy;Lance;Clin Exp Neurol,1984

3. Unusual familial association of epilepsy, myoclonus and muscular atrophy. Case report [in Italian];D'Ecclesia;Riv Neurol,1985

4. Progressive familial myoclonic epilepsy with bulbo-spinal amyotrophy. Clinical, electrophysiological study and biopsy of a case [in Italian];Taglioli;Riv Neurol,1990

5. Association of progressive myoclonic epilepsy and spinal muscular atrophy;Marjanovic;Paediatr Neurol,1993

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