Reduced ceramide synthase 2 activity causes progressive myoclonic epilepsy

Annals of Clinical and Translational Neurology

Volumn 1, Issue 2, 2014, Pages 88-98

  Mosbech, Mai Britt ^a   Olsen, Anne S B ^a   Neess, Ditte ^a   Ben David, Oshrit ^b   Klitten, Laura L ^c   Larsen, Jan ^c,d   Sabers, Anne ^e   Vissing, John ^e   Nielsen, Jørgen E ^f   Hasholt, Lis ^d   Klein, Andres D ^b   Tsoory, Michael M ^b   Hjalgrim, Helle ^a,c   Tommerup, Niels ^d   Futerman, Anthony H ^b   Møller, Rikke S ^a,c   Færgeman, Nils J ^a  

^a UNIVERSITY OF SOUTHERN DENMARK   (Denmark)

^b WEIZMANN INSTITUTE OF SCIENCE   (Israel)

^c DANISH EPILEPSY CENTRE   (Denmark)

^d UNIVERSITY OF COPENHAGEN   (Denmark)

^e UNIVERSITY OF COPENHAGEN   (Denmark)

^f University of Copenhagen   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

CERAMIDE; CERAMIDE SYNTHASE 2; CHOLERA TOXIN B SUBUNIT; HISTONE LYSINE METHYLTRANSFERASE; MESSENGER RNA; OXCARBAZEPINE; PIRACETAM; SPHINGOMYELIN; SYNTHETASE; UNCLASSIFIED DRUG; VALPROIC ACID; VERY LONG CHAIN FATTY ACID;

ADULT; ANIMAL BEHAVIOR; ANIMAL EXPERIMENT; ARTICLE; ATAXIA; CASE REPORT; CELL CULTURE; CELL MEMBRANE; CONTROLLED STUDY; DYSARTHRIA; ENZYMATIC ASSAY; ENZYME ACTIVITY; FIBROBLAST; FLUORESCENCE MICROSCOPY; GENE DELETION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LIPID ANALYSIS; LIPID COMPOSITION; MALE; MASS SPECTROMETRY; MOUSE; MYOCLONUS EPILEPSY; NEUROLOGIC EXAMINATION; NONHUMAN; PHOTOSENSITIVITY; PRIORITY JOURNAL; PROTEIN EXPRESSION; REAL TIME POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SKIN BIOPSY; STAINING; TONIC CLONIC SEIZURE; WESTERN BLOTTING;

EID: 84907597342     PISSN: None     EISSN: 23289503     Source Type: Journal    
DOI: 10.1002/acn3.28     Document Type: Article

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