DNM1L-related mitochondrial fission defect presenting as refractory epilepsy

European Journal of Human Genetics

Volumn 24, Issue 7, 2016, Pages 1084-1088

  Vanstone, Jason R ^a   Smith, Amanda M ^a   McBride, Skye ^a   Naas, Turaya ^a   Holcik, Martin ^a,b   Antoun, Ghadi ^b   Harper, Mary Ellen ^b   Michaud, Jean ^a   Sell, Erick ^a   Chakraborty, Pranesh ^a   Tetreault, Martine ^c   Majewski, Jacek ^c   Baird, Stephen ^a   Boycott, Kym M ^a   Dyment, David A ^a   MacKenzie, Alex ^a   Lines, Matthew A ^a  

^a CHILDREN S HOSPITAL OF EASTERN ONTARIO   (Canada)

^b UNIVERSITY OF OTTAWA   (Canada)

^c MCGILL UNIVERSITY   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

DYNAMIN I; DNM1L PROTEIN, HUMAN; GUANOSINE TRIPHOSPHATASE; MICROTUBULE ASSOCIATED PROTEIN; MITOCHONDRIAL PROTEIN;

ARTICLE; BLOOD EXAMINATION; BRAIN PERFUSION; CASE REPORT; CONFOCAL MICROSCOPY; CONTROLLED STUDY; DEVELOPMENTAL DISORDER; DISORDERS OF MITOCHONDRIAL FUNCTIONS; DRUG RESISTANT EPILEPSY; ELECTROENCEPHALOGRAM; ELECTRON MICROSCOPY; EPILEPTIC DISCHARGE; EXOME; FEMALE; FIBROBLAST; GENE SEQUENCE; GENETIC VARIABILITY; HUMAN; HUMAN CELL; NEWBORN; OLIGOMERIZATION; PEROXISOME; PRIORITY JOURNAL; PROTEIN DOMAIN; SKELETAL MUSCLE; SURVIVAL; URINALYSIS; CELL CULTURE; CHILD; GENETICS; MALE; METABOLISM; MISSENSE MUTATION; MITOCHONDRIAL DYNAMICS; MUSCLE MITOCHONDRION; PATHOLOGY; SYNDROME; ULTRASTRUCTURE;

CELLS, CULTURED; CHILD; DEVELOPMENTAL DISABILITIES; DRUG RESISTANT EPILEPSY; EXOME; FIBROBLASTS; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MICROTUBULE-ASSOCIATED PROTEINS; MITOCHONDRIA, MUSCLE; MITOCHONDRIAL DYNAMICS; MITOCHONDRIAL PROTEINS; MUSCLE, SKELETAL; MUTATION, MISSENSE; SYNDROME;

EID: 84975635993     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2015.243     Document Type: Article

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