Impairment of ceramide synthesis causes a novel progressive myoclonus epilepsy

Annals of Neurology

Volumn 76, Issue 2, 2014, Pages 206-212

  Vanni, Nicola ^a   Fruscione, Floriana ^a   Ferlazzo, Edoardo ^b   Striano, Pasquale ^c   Robbiano, Angela ^a   Traverso, Monica ^a   Sander, Thomas ^d   Falace, Antonio ^c   Gazzerro, Elisabetta ^a   Bramanti, Placido ^e   Bielawski, Jacek ^f   Fassio, Anna ^c   Minetti, Carlo ^c   Genton, Pierre ^g   Zara, Federico ^a  

^a G GASLINI INSTITUTE   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c UNIVERSITY OF GENOA   (Italy)

^d UNIVERSITY OF COLOGNE   (Germany)

^e IRCCS Neurolesi Bonino Pulejo Ospedale Piemonte   (Italy)

^f MEDICAL UNIVERSITY OF SOUTH CAROLINA   (United States)

^g Henri Gastaut Hospital Center Saint Paul   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE; SPHINGOLIPID; CERS1 PROTEIN, HUMAN; MEMBRANE PROTEIN; SPHINGOSINE ACYLTRANSFERASE;

ARTICLE; BIOSYNTHESIS; CERAMIDE SYNTHASE 1 GENE; DEMENTIA; DOWN REGULATION; ENDOPLASMIC RETICULUM; ENDOPLASMIC RETICULUM STRESS; GENE; HUMAN; HUMAN CELL; MISSENSE MUTATION; MYOCLONUS EPILEPSY; NERVE DEGENERATION; NEUROBLASTOMA CELL LINE; PATHOGENESIS; PRIORITY JOURNAL; PROTEIN EXPRESSION; SIBLING; ALGERIA; CASE REPORT; GENETICS; METABOLISM; MUTATION;

ALGERIA; CERAMIDES; DEMENTIA; ENDOPLASMIC RETICULUM; HUMANS; MEMBRANE PROTEINS; MUTATION; MYOCLONIC EPILEPSIES, PROGRESSIVE; SIBLINGS; SPHINGOSINE N-ACYLTRANSFERASE;

EID: 84907598970     PISSN: 03645134     EISSN: 15318249     Source Type: Journal    
DOI: 10.1002/ana.24170     Document Type: Article

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