Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

Neurology: Genetics

Volumn 1, Issue 1, 2015, Pages

  Dhindsa, Ryan S ^b   Bradrick, Shelton S ^a,b   Yao, Xiaodi ^b   Heinzen, Erin L ^c   Petrovski, Slave ^c,d   Krueger, Brian J ^c   Johnson, Michael R ^e   Frankel, Wayne N ^f   Petrou, Steven ^g   Boumil, Rebecca M ^f   Goldstein, David B ^c  

^a Department of Molecular Genetics and Microbiology ^*  (United States)

^b DUKE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c Och Spine at New York Presbyterian Hospitals   (United States)

^d UNIVERSITY OF MELBOURNE   (Australia)

^e CHARING CROSS HOSPITAL   (United Kingdom)

^f JACKSON LABORATORY   (United States)

^g FLOREY INSTITUTE OF NEUROSCIENCE AND MENTAL HEALTH   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

DNM1 PROTEIN; GREEN FLUORESCENT PROTEIN; GUANOSINE TRIPHOSPHATASE; MUTANT PROTEIN; PROTEIN; TRANSFERRIN; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTISM; ELECTRON MICROSCOPY; ENDOCYTOSIS; FEMALE; GENE DISRUPTION; GENETIC CODE; HUMAN; HUMAN CELL; INFANTILE SPASM; INTELLECTUAL IMPAIRMENT; KETOGENIC DIET; LENNOX GASTAUT SYNDROME; MISSENSE MUTATION; MOUSE; MUSCLE HYPOTONIA; MUTAGENESIS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; SPEECH DISORDER; SYNAPSE VESICLE; WESTERN BLOTTING;

EID: 85046981775     PISSN: None     EISSN: 23767839     Source Type: Journal    
DOI: 10.1212/01.NXG.0000464295.65736.da     Document Type: Article

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